17-42945715-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945715
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945715
    reference: chr 17
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.893A>T
  hgvsp: ENSP00000385873.2:p.Asp298Val
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.*62+35A>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.968A>T
  hgvsp: ENSP00000465058.1:p.Asp323Val
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.726A>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000586654
  gene symbol: EFTUD2
  hgvsc: ENST00000586654.1:n.53A>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.998A>T
  hgvsp: ENSP00000392094.1:p.Asp333Val
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.998A>T
  hgvsp: ENSP00000467805.1:p.Asp333Val
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5980
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp333Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ

17-42945722-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945722
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945722
    reference: chr 17
allele count: 2
allele frequency: 1.666139055965611e-5
allele num: 120038
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000586654
  gene symbol: EFTUD2
  hgvsc: ENST00000586654.1:n.46A>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-4A>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.*62+28A>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-4A>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-4A>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-4A>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-4A>C
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 1
hgvs: c.995-4A>C
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-42945727-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945727
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945727
    reference: chr 17
allele count: 42
allele frequency: 3.557995323777575e-4
allele num: 118044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-9C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-9C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-9C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-9C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-9C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000586654
  gene symbol: EFTUD2
  hgvsc: ENST00000586654.1:n.41C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.*62+23C>T
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 23378
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 48056
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 5
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-42945734-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945734
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945734
    reference: chr 17
allele count: 2
allele frequency: 1.694139969844308e-5
allele num: 118054
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-16G>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-16G>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000586654
  gene symbol: EFTUD2
  hgvsc: ENST00000586654.1:n.34G>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-16G>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.*62+16G>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-16G>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-16G>C
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

17-42945736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945736
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945736
    reference: chr 17
allele count: 8
allele frequency: 6.816051801993695e-5
allele num: 117370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.*62+14G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-18G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-18G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-18G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000586654
  gene symbol: EFTUD2
  hgvsc: ENST00000586654.1:n.32G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-18G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-18G>A
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23586
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/17-42945743-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945743
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945743
    reference: chr 17
allele count: 1
allele frequency: 8.678596844462188e-6
allele num: 115226
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-25T>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-25T>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-25T>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000586654
  gene symbol: EFTUD2
  hgvsc: ENST00000586654.1:n.25T>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-25T>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.*62+7T>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-25T>G
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44842
  bin: 6.25e1
  variant carriers: 0
hgvs: c.*62+7T>G
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

17-42945749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945749
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945749
    reference: chr 17
allele count: 4
allele frequency: 3.570663429265157e-5
allele num: 112024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.*62+1G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-31G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-31G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-31G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000586654
  gene symbol: EFTUD2
  hgvsc: ENST00000586654.1:n.19G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-31G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-31G>A
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22348
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21989
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
hgvs: c.*62+1G>A
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/17-42945754-C-CAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945754
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945756
    reference: chr 17
allele count: 1
allele frequency: 9.31584438813534e-6
allele num: 107344
alternate allele: CAA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.*56_*57dupTT
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-38_890-37dupTT
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000586654
  gene symbol: EFTUD2
  hgvsc: ENST00000586654.1:n.12_13dupTT
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-38_723-37dupTT
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-38_995-37dupTT
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-38_965-37dupTT
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-38_995-37dupTT
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12142
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-42945755-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945755
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945755
    reference: chr 17
allele count: 6
allele frequency: 5.630207942346671e-5
allele num: 106568
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000586654
  gene symbol: EFTUD2
  hgvsc: ENST00000586654.1:n.13T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.*57T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-37T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-37T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-37T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-37T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-37T>C
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19963
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

17-42945758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945758
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945758
    reference: chr 17
allele count: 1
allele frequency: 9.615939381118142e-6
allele num: 103994
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-40C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.*54C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-40C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-40C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-40C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000586654
  gene symbol: EFTUD2
  hgvsc: ENST00000586654.1:n.10C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-40C>T
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

17-42945763-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945763
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945763
    reference: chr 17
allele count: 1784
allele frequency: 1.798640937229044e-2
allele num: 99186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-45C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-45C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000586654
  gene symbol: EFTUD2
  hgvsc: ENST00000586654.1:n.5C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-45C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.*49C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-45C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-45C>T
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10589
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 14962
  bin: 2.25e1
  variant carriers: 388
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 10717
  bin: 1.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 16741
  bin: 2.75e1
  variant carriers: 339
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 1.75e1
  variant carriers: 250
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 3.25e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 28234
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.25e1
  variant carriers: 8
num of homozygotes: 29
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

17-42945772-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945772
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945772
    reference: chr 17
allele count: 1
allele frequency: 1.123671258736544e-5
allele num: 88994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.*40A>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-54A>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-54A>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-54A>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-54A>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-54A>G
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-42945774-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945774
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945774
    reference: chr 17
allele count: 1
allele frequency: 1.172470395122523e-5
allele num: 85290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-56A>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.*38A>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-56A>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-56A>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-56A>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-56A>C
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10790
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

17-42945793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945793
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945793
    reference: chr 17
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-75C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-75C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-75C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-75C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-75C>T
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-42945827-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945827
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945827
    reference: chr 17
allele count: 1
allele frequency: 4.048910842983238e-5
allele num: 24698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-109G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.102G>T
  hgvsp: ENSP00000468284.1:p.Trp34Cys
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-109G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-109G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-109G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-109G>T
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25916
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22132
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Trp34Cys
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

17-42945836-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945836
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945836
    reference: chr 17
allele count: 3
allele frequency: 1.58144438587243e-4
allele num: 18970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-118T>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-118T>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.93T>A
  hgvsp: ENST00000591856.1:c.93T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-118T>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-118T>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-118T>A
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28804
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18395
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro31Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-42945838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945838
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945838
    reference: chr 17
allele count: 1
allele frequency: 5.661231884057971e-5
allele num: 17664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.91C>T
  hgvsp: ENSP00000468284.1:p.Pro31Ser
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-120C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-120C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-120C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-120C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-120C>T
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29724
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
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genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 31003
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16900
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro31Ser
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: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

17-42945859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945859
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945859
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 9298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-141C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-141C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-141C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-141C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-141C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.82-12C>T
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 27847
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15253
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4782
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

17-42945859-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945859
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945859
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 9298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-141C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-141C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.82-12C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-141C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-141C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-141C>A
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15253
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27847
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4782
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-42945865-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945865
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945865
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 8360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-147G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-147G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.82-18G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-147G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-147G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-147G>A
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14995
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27399
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3930
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

17-42945867-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945867
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945867
    reference: chr 17
allele count: 6118
allele frequency: 6.980830670926518e-1
allele num: 8764
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-149T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.82-20T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-149T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-149T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-149T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-149T>C
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.75e1
  variant carriers: 256
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.25e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19760
  bin: 2.5e0
  variant carriers: 9523
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15411
  bin: 7.5e0
  variant carriers: 12028
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 1.25e1
  variant carriers: 2249
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 2.25e1
  variant carriers: 436
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 773
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.25e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 4954
  bin: 1.75e1
  variant carriers: 4831
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 1.25e1
  variant carriers: 3851
genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 2.25e1
  variant carriers: 2584
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 3.25e1
  variant carriers: 783
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.75e1
  variant carriers: 346
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 9.25e1
  variant carriers: 540
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 178
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.75e1
  variant carriers: 129
genotype quality: GenotypeQuality
  all individuals: 7272
  bin: 2.5e0
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 6.25e1
  variant carriers: 688
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.25e1
  variant carriers: 402
num of homozygotes: 2098
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-42945873-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945873
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945873
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 5460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.82-26G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-155G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-155G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-155G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-155G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-155G>T
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34706
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

17-42945875-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945875
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945875
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 5080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.82-28C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-157C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-157C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-157C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-157C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-157C>A
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34113
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30384
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4427
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

17-42945877-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42945877
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42945877
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 5084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.890-159C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.82-30C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.965-159C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.723-159C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.995-159C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.995-159C>A
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34344
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30859
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-42949765-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949765
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949765
    reference: chr 17
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.994+49G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.889+49G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.722+49G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.994+49G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.81+49G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.964+49G>T
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26038
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-42949767-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949767
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949767
    reference: chr 17
allele count: 2
allele frequency: 1.648940555692967e-5
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.81+47G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.994+47G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.994+47G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.889+47G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.722+47G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.964+47G>T
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26038
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

17-42949767-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949767
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949767
    reference: chr 17
allele count: 5
allele frequency: 4.122351389232418e-5
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.994+47G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.81+47G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.964+47G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.889+47G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.994+47G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.722+47G>A
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26038
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-42949775-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949775
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949775
    reference: chr 17
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.81+39T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.964+39T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.889+39T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.722+39T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.994+39T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.994+39T>C
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26036
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-42949776-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949776
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949776
    reference: chr 17
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.994+38C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.889+38C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.964+38C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.81+38C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.722+38C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.994+38C>T
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26035
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51134
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD

17-42949777-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949777
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949777
    reference: chr 17
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.994+37C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.964+37C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.81+37C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.722+37C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.994+37C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.889+37C>T
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26034
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

17-42949784-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949784
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949784
    reference: chr 17
allele count: 2
allele frequency: 1.648505629646725e-5
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.722+30A>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.889+30A>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.994+30A>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.964+30A>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.994+30A>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.81+30A>G
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26034
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3975
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51141
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-42949785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949785
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949785
    reference: chr 17
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.722+29C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.81+29C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.964+29C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.889+29C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.994+29C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.994+29C>T
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26032
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51141
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

17-42949807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949807
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949807
    reference: chr 17
allele count: 60
allele frequency: 4.944946264917254e-4
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.722+7G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.964+7G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.81+7G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.994+7G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.994+7G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.889+7G>A
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26031
  bin: 9.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51158
  bin: 9.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: c.994+7G>A
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

17-42949808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949808
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949808
    reference: chr 17
allele count: 32435
allele frequency: 2.673111473734527e-1
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.81+6C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.994+6C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.722+6C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.889+6C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.994+6C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.964+6C>T
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 6.75e1
  variant carriers: 207
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 9.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 2.75e1
  variant carriers: 318
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 3.25e1
  variant carriers: 417
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 5.25e1
  variant carriers: 457
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 4.75e1
  variant carriers: 490
genotype depth: GenotypeDepth
  all individuals: 26441
  bin: 9.75e1
  variant carriers: 23501
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 8.25e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 6.25e1
  variant carriers: 255
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 7.75e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 5.75e1
  variant carriers: 385
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.75e1
  variant carriers: 495
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 7.25e1
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 2.25e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 8.75e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 529
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 6.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 9.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 7.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 6.25e1
  variant carriers: 19
hgvs: c.994+6C>T
num of homozygotes: 4453
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

17-42949818-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949818
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949818
    reference: chr 17
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.990C>A
  hgvsp: ENST00000591382.1:c.990C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.990C>A
  hgvsp: ENST00000426333.2:c.990C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.77C>A
  hgvsp: ENSP00000468284.1:p.Pro26His
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.718C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.885C>A
  hgvsp: ENST00000402521.3:c.885C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.960C>A
  hgvsp: ENST00000592576.1:c.960C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro26His
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

17-42949824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949824
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949824
    reference: chr 17
allele count: 146
allele frequency: 1.20311160920298e-3
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.712C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.984C>T
  hgvsp: ENST00000426333.2:c.984C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.879C>T
  hgvsp: ENST00000402521.3:c.879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.71C>T
  hgvsp: ENSP00000468284.1:p.Pro24Leu
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.984C>T
  hgvsp: ENST00000591382.1:c.984C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.954C>T
  hgvsp: ENST00000592576.1:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 9.75e1
  variant carriers: 135
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6022
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro24Leu
num of homozygotes: 2
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

17-42949830-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949830
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949830
    reference: chr 17
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.873C>T
  hgvsp: ENST00000402521.3:c.873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.978C>T
  hgvsp: ENST00000591382.1:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.65C>T
  hgvsp: ENSP00000468284.1:p.Ser22Phe
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.978C>T
  hgvsp: ENST00000426333.2:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.706C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.948C>T
  hgvsp: ENST00000592576.1:c.948C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser22Phe
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-42949830-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949830
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949830
    reference: chr 17
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.873C>G
  hgvsp: ENSP00000385873.2:p.Ile291Met
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.706C>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.978C>G
  hgvsp: ENSP00000467805.1:p.Ile326Met
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.978C>G
  hgvsp: ENSP00000392094.1:p.Ile326Met
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.948C>G
  hgvsp: ENSP00000465058.1:p.Ile316Met
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.65C>G
  hgvsp: ENSP00000468284.1:p.Ser22Cys
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile326Met
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-42949832-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949832
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949832
    reference: chr 17
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.946A>G
  hgvsp: ENSP00000465058.1:p.Ile316Val
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.871A>G
  hgvsp: ENSP00000385873.2:p.Ile291Val
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.704A>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.976A>G
  hgvsp: ENSP00000467805.1:p.Ile326Val
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.976A>G
  hgvsp: ENSP00000392094.1:p.Ile326Val
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.63A>G
  hgvsp: ENST00000591856.1:c.63A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48620
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile326Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

17-42949836-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949836
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949836
    reference: chr 17
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.700C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.972C>T
  hgvsp: ENST00000591382.1:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.867C>T
  hgvsp: ENST00000402521.3:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.942C>T
  hgvsp: ENST00000592576.1:c.942C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.59C>T
  hgvsp: ENSP00000468284.1:p.Pro20Leu
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.972C>T
  hgvsp: ENST00000426333.2:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48621
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro20Leu
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

17-42949842-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949842
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949842
    reference: chr 17
allele count: 6
allele frequency: 4.94445726340772e-5
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.966C>G
  hgvsp: ENST00000591382.1:c.966C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.53C>G
  hgvsp: ENSP00000468284.1:p.Pro18Arg
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.861C>G
  hgvsp: ENST00000402521.3:c.861C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.694C>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.966C>G
  hgvsp: ENST00000426333.2:c.966C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.936C>G
  hgvsp: ENST00000592576.1:c.936C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5519
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6075
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro18Arg
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/17-42949851-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949851
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949851
    reference: chr 17
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.957G>T
  hgvsp: ENST00000426333.2:c.957G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.852G>T
  hgvsp: ENST00000402521.3:c.852G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.44G>T
  hgvsp: ENSP00000468284.1:p.Arg15Leu
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.685G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.957G>T
  hgvsp: ENST00000591382.1:c.957G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.927G>T
  hgvsp: ENST00000592576.1:c.927G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48621
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg15Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

17-42949851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949851
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949851
    reference: chr 17
allele count: 4
allele frequency: 3.296576505299247e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.852G>A
  hgvsp: ENST00000402521.3:c.852G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.44G>A
  hgvsp: ENSP00000468284.1:p.Arg15His
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.685G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.957G>A
  hgvsp: ENST00000426333.2:c.957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.957G>A
  hgvsp: ENST00000591382.1:c.957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.927G>A
  hgvsp: ENST00000592576.1:c.927G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48621
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg15His
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

17-42949860-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949860
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949860
    reference: chr 17
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.948C>G
  hgvsp: ENSP00000392094.1:p.Ile316Met
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.948C>G
  hgvsp: ENSP00000467805.1:p.Ile316Met
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.35C>G
  hgvsp: ENSP00000468284.1:p.Ser12Cys
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.676C>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.843C>G
  hgvsp: ENSP00000385873.2:p.Ile281Met
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.918C>G
  hgvsp: ENSP00000465058.1:p.Ile306Met
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5519
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile316Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-42949867-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949867
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949867
    reference: chr 17
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.911A>G
  hgvsp: ENSP00000465058.1:p.Tyr304Cys
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.941A>G
  hgvsp: ENSP00000392094.1:p.Tyr314Cys
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.941A>G
  hgvsp: ENSP00000467805.1:p.Tyr314Cys
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.28A>G
  hgvsp: ENSP00000468284.1:p.Thr10Ala
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.669A>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.836A>G
  hgvsp: ENSP00000385873.2:p.Tyr279Cys
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5519
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48616
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr314Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-42949872-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949872
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949872
    reference: chr 17
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.936C>A
  hgvsp: ENST00000591382.1:c.936C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.906C>A
  hgvsp: ENST00000592576.1:c.906C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.664C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.936C>A
  hgvsp: ENST00000426333.2:c.936C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.831C>A
  hgvsp: ENST00000402521.3:c.831C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.23C>A
  hgvsp: ENSP00000468284.1:p.Pro8His
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5519
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro8His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-42949874-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949874
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949874
    reference: chr 17
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.904T>C
  hgvsp: ENSP00000465058.1:p.Ser302Pro
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.934T>C
  hgvsp: ENSP00000392094.1:p.Ser312Pro
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.21T>C
  hgvsp: ENST00000591856.1:c.21T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.934T>C
  hgvsp: ENSP00000467805.1:p.Ser312Pro
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.662T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.829T>C
  hgvsp: ENSP00000385873.2:p.Ser277Pro
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5519
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser312Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

17-42949881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949881
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949881
    reference: chr 17
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.14C>T
  hgvsp: ENSP00000468284.1:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.927C>T
  hgvsp: ENST00000426333.2:c.927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.897C>T
  hgvsp: ENST00000592576.1:c.897C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.927C>T
  hgvsp: ENST00000591382.1:c.927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.822C>T
  hgvsp: ENST00000402521.3:c.822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.655C>T
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48611
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser5Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-42949889-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949889
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949889
    reference: chr 17
allele count: 2
allele frequency: 1.651527663088357e-5
allele num: 121100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.919G>A
  hgvsp: ENSP00000467805.1:p.Val307Ile
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.919G>A
  hgvsp: ENSP00000392094.1:p.Val307Ile
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.647G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.6G>A
  hgvsp: ENST00000591856.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.814G>A
  hgvsp: ENSP00000385873.2:p.Val272Ile
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.889G>A
  hgvsp: ENSP00000465058.1:p.Val297Ile
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48611
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val307Ile
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-42949890-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949890
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949890
    reference: chr 17
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.813C>T
  hgvsp: ENST00000402521.3:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.888C>T
  hgvsp: ENST00000592576.1:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000468284
  ensembl transcript: ENST00000591856
  gene symbol: EFTUD2
  hgvsc: ENST00000591856.1:c.5C>T
  hgvsp: ENSP00000468284.1:p.Thr2Met
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.918C>T
  hgvsp: ENST00000591382.1:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.918C>T
  hgvsp: ENST00000426333.2:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.646C>T
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5907
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr2Met
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-42949928-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949928
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949928
    reference: chr 17
allele count: 1
allele frequency: 8.445803280349994e-6
allele num: 118402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.775A>G
  hgvsp: ENSP00000385873.2:p.Thr259Ala
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.608A>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.850A>G
  hgvsp: ENSP00000465058.1:p.Thr284Ala
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.880A>G
  hgvsp: ENSP00000392094.1:p.Thr294Ala
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.880A>G
  hgvsp: ENSP00000467805.1:p.Thr294Ala
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48608
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr294Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

17-42949936-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949936
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949936
    reference: chr 17
allele count: 1
allele frequency: 8.495310588555118e-6
allele num: 117712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.767T>C
  hgvsp: ENSP00000385873.2:p.Met256Thr
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.872T>C
  hgvsp: ENSP00000392094.1:p.Met291Thr
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.842T>C
  hgvsp: ENSP00000465058.1:p.Met281Thr
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.872T>C
  hgvsp: ENSP00000467805.1:p.Met291Thr
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.600T>C
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met291Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

17-42949945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949945
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949945
    reference: chr 17
allele count: 2
allele frequency: 1.71051281174096e-5
allele num: 116924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.840-7G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.870-7G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.591G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.765-7G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.870-7G>A
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 6.75e1
  variant carriers: 0
hgvs: c.870-7G>A
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

17-42949945-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949945
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949943
    reference: chr 17
allele count: 1
allele frequency: 8.552564058704799e-6
allele num: 116924
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.870-9_870-8delCT
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.870-9_870-8delCT
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.589_590delCT
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.765-9_765-8delCT
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.840-9_840-8delCT
  variant of: http://identifiers.org/hgnc/30858
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48609
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
hgvs: c.870-9_870-8delCT
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: CAG
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

17-42949947-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949947
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949947
    reference: chr 17
allele count: 1
allele frequency: 8.558712769599453e-6
allele num: 116840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.589C>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.765-9C>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.870-9C>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.840-9C>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.870-9C>G
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-42949961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949961
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949961
    reference: chr 17
allele count: 9
allele frequency: 7.778738115816767e-5
allele num: 115700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.765-23G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.840-23G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.870-23G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.575G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.870-23G>A
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48606
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-42949963-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949963
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949963
    reference: chr 17
allele count: 1
allele frequency: 8.66265874322147e-6
allele num: 115438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.870-25G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.765-25G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.870-25G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.840-25G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.573G>T
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48604
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

17-42949972-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949972
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949972
    reference: chr 17
allele count: 2
allele frequency: 1.74584053492554e-5
allele num: 114558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.870-34C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.870-34C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.765-34C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.564C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.840-34C>T
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48602
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

17-42949974-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949974
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949974
    reference: chr 17
allele count: 1
allele frequency: 8.738356140442859e-6
allele num: 114438
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.870-36A>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.840-36A>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.765-36A>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.562A>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.870-36A>C
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-42949980-A-AGCCCGGACGCACT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949980
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949993
    reference: chr 17
allele count: 1
allele frequency: 8.822699040090344e-6
allele num: 113344
alternate allele: AGCCCGGACGCACT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

17-42949984-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949984
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949984
    reference: chr 17
allele count: 1
allele frequency: 8.855670285683923e-6
allele num: 112922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.870-46G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.870-46G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.840-46G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.765-46G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.552G>A
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48587
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

17-42949985-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949985
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949985
    reference: chr 17
allele count: 1
allele frequency: 8.863990923273295e-6
allele num: 112816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.551C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.765-47C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.870-47C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.870-47C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.840-47C>T
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

17-42949985-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949985
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949985
    reference: chr 17
allele count: 1
allele frequency: 8.863990923273295e-6
allele num: 112816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.765-47C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.840-47C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.870-47C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.551C>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.870-47C>A
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48593
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-42949988-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949988
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949988
    reference: chr 17
allele count: 1
allele frequency: 8.882414595583663e-6
allele num: 112582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.870-50G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.870-50G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.840-50G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.765-50G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.548G>T
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

17-42949988-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949988
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949988
    reference: chr 17
allele count: 4
allele frequency: 3.552965838233465e-5
allele num: 112582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.870-50G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.840-50G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.765-50G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.548G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.870-50G>A
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ

17-42949989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42949989
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42949989
    reference: chr 17
allele count: 1
allele frequency: 8.892050506846879e-6
allele num: 112460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.840-51C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.870-51C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000590367
  gene symbol: EFTUD2
  hgvsc: ENST00000590367.1:n.547C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.870-51C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.765-51C>T
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5158
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48588
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

17-42953263-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42953263
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42953263
    reference: chr 17
allele count: 2
allele frequency: 1.682963361887612e-5
allele num: 118838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.839+39G>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.764+39G>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.869+39G>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.869+39G>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000587957
  gene symbol: EFTUD2
  hgvsc: ENST00000587957.1:n.241G>C
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16855
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41177
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

17-42953265-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42953265
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42953265
    reference: chr 17
allele count: 1
allele frequency: 8.400114241553686e-6
allele num: 119046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.764+37A>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.869+37A>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.839+37A>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.869+37A>G
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000587957
  gene symbol: EFTUD2
  hgvsc: ENST00000587957.1:n.239A>G
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16854
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-42953267-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42953267
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42953267
    reference: chr 17
allele count: 2
allele frequency: 1.680785262874815e-5
allele num: 118992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000587957
  gene symbol: EFTUD2
  hgvsc: ENST00000587957.1:n.237G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.764+35G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.869+35G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.839+35G>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.869+35G>T
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16855
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5134
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41177
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

17-42953267-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42953267
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42953267
    reference: chr 17
allele count: 7
allele frequency: 5.882748420061853e-5
allele num: 118992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.869+35G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000587957
  gene symbol: EFTUD2
  hgvsc: ENST00000587957.1:n.237G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.839+35G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.869+35G>A
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.764+35G>A
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16855
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5134
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

17-42953268-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42953268
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42953268
    reference: chr 17
allele count: 4
allele frequency: 3.354410210824681e-5
allele num: 119246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.839+34C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.764+34C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000587957
  gene symbol: EFTUD2
  hgvsc: ENST00000587957.1:n.236C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.869+34C>T
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.869+34C>T
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16848
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

17-42953274-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42953274
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42953274
    reference: chr 17
allele count: 9
allele frequency: 7.524957776625809e-5
allele num: 119602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.869+28T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.869+28T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.764+28T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.839+28T>C
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000587957
  gene symbol: EFTUD2
  hgvsc: ENST00000587957.1:n.230T>C
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16845
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

17-42953289-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42953289
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42953288
    reference: chr 17
allele count: 1
allele frequency: 8.297515723792297e-6
allele num: 120518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108883
  ensembl transcript: ENST00000587957
  gene symbol: EFTUD2
  hgvsc: ENST00000587957.1:n.214delC
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000465058
  ensembl transcript: ENST00000592576
  gene symbol: EFTUD2
  hgvsc: ENST00000592576.1:c.839+12delC
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000467805
  ensembl transcript: ENST00000591382
  gene symbol: EFTUD2
  hgvsc: ENST00000591382.1:c.869+12delC
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000392094
  ensembl transcript: ENST00000426333
  gene symbol: EFTUD2
  hgvsc: ENST00000426333.2:c.869+12delC
  variant of: http://identifiers.org/hgnc/30858
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108883
  ensembl protein: ENSP00000385873
  ensembl transcript: ENST00000402521
  gene symbol: EFTUD2
  hgvsc: ENST00000402521.3:c.764+12delC
  variant of: http://identifiers.org/hgnc/30858
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16842
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41180
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: AG

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1224
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49523
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509844184080203e-5
allele num: 66232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.68e-1

DP
type: SiteQuality
SIO_000300: 1.529692e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.23e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 202
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48771
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5884
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515702679762338e-5
allele num: 65976
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.0828e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.48e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

QD
type: SiteQuality
SIO_000300: 1.81e0

VQSLOD
type: SiteQuality
SIO_000300: -9.015000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 3.89e-1

DP
type: SiteQuality
SIO_000300: 1.523662e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.185e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.21e-1

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 508
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 284
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 242
bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 97
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 333
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 269
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5713
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 786
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169043722235212e-4
allele num: 8554
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.004202521512907e-4
allele num: 9994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 4.784245941107476e-4
allele num: 64796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.674353381115612e-4
allele num: 6418
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.855e1

VQSLOD
type: SiteQuality
SIO_000300: -2.499e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.361e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.803e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

FS
type: SiteQuality
SIO_000300: 6.861799999999999e1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

DP
type: SiteQuality
SIO_000300: 1.531851e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e0

QD
type: SiteQuality
SIO_000300: 5.0e-1

GenotypeQuality
all individuals: 2788
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47851
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 2
allele frequency: 2.343566908835247e-4
allele num: 8534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-1

FS
type: SiteQuality
SIO_000300: 1.669e0

MQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

QD
type: SiteQuality
SIO_000300: 1.463e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.007e0

DP
type: SiteQuality
SIO_000300: 1.481002e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.31e-1

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 774
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

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

African
type: Population
allele count: 8
allele frequency: 7.833920877399138e-4
allele num: 10212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15464
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.939e1

FS
type: SiteQuality
SIO_000300: 2.542e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.434e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

DP
type: SiteQuality
SIO_000300: 1.471723e6

QD
type: SiteQuality
SIO_000300: 1.11e1

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5500
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.916699722332408e-5
allele num: 10084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.861e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

DP
type: SiteQuality
SIO_000300: 1.439261e6

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.107e0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

GenotypeQuality
all individuals: 41307
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8055
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5241
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.799944001119978e-4
allele num: 14286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61700
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10860
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.394641e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

FS
type: SiteQuality
SIO_000300: 7.804e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: -8.297e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.068e0

QD
type: SiteQuality
SIO_000300: 1.603e1

GenotypeQuality
all individuals: 124
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7844
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.040366208905535e-4
allele num: 9612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10442
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 5.0e0

MQ
type: SiteQuality
SIO_000300: 6.01e1

VQSLOD
type: SiteQuality
SIO_000300: 8.149999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.951e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-1

DP
type: SiteQuality
SIO_000300: 1.324967e6

GenotypeQuality
all individuals: 471
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35758
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4487
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12973
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.022146507666099e-4
allele num: 58700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7780
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 1.309e1

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

DP
type: SiteQuality
SIO_000300: 1.309858e6

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

FS
type: SiteQuality
SIO_000300: 4.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32940
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15221
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 612
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9408
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.322751322751323e-4
allele num: 7560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13018
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.69e0

MQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.593e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.89e-1

DP
type: SiteQuality
SIO_000300: 1.26927e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.738e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

GenotypeQuality
all individuals: 402
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 203
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 451
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 56
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1796
bin: 9.75e1
variant carriers: 1704

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 516
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18963
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 256
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 161
bin: 8.25e1
variant carriers: 5

Other
type: Population
allele count: 14
allele frequency: 1.808785529715762e-2
allele num: 774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7142
num of homozygotes: 0

Latino
type: Population
allele count: 80
allele frequency: 8.449514152936205e-3
allele num: 9468
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 105
allele frequency: 1.863684771033014e-2
allele num: 5634
num of homozygotes: 4

South Asian
type: Population
allele count: 33
allele frequency: 2.680311890838206e-3
allele num: 12312
num of homozygotes: 1

African
type: Population
allele count: 46
allele frequency: 5.042753782065337e-3
allele num: 9122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1506
allele frequency: 2.751489019622173e-2
allele num: 54734
num of homozygotes: 22

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.264e0

DP
type: SiteQuality
SIO_000300: 1.202736e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.445e1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

GenotypeQuality
all individuals: 239
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 146
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3067
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.037074760643716e-5
allele num: 49090
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11056
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.994e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 5.893e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 1.027141e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

QD
type: SiteQuality
SIO_000300: 8.26e0

GenotypeQuality
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2281
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30317
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.123773520791743e-5
allele num: 47086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4974
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 1.516e0

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.708e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.028e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.61e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

DP
type: SiteQuality
SIO_000300: 9.74922e5

GenotypeQuality
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8574
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 90
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.705042198658299e-5
allele num: 36968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6674
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.201e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.646e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

QD
type: SiteQuality
SIO_000300: 2.026e1

DP
type: SiteQuality
SIO_000300: 7.59165e5

GenotypeQuality
all individuals: 284
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1697
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 3.201024327784891e-4
allele num: 3124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2524
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.799e0

QD
type: SiteQuality
SIO_000300: 1.234e1

DP
type: SiteQuality
SIO_000300: 4.22427e5

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.71e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.825e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.788e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-1

GenotypeQuality
all individuals: 1097
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30072
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 590
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.803426510369702e-4
allele num: 11090
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.068376068376068e-3
allele num: 936
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.259e1

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.825e-1

DP
type: SiteQuality
SIO_000300: 3.72466e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.119951040391676e-4
allele num: 1634
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.143e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.65e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.84e-1

DP
type: SiteQuality
SIO_000300: 3.59701e5

VQSLOD
type: SiteQuality
SIO_000300: -2.592e0

QD
type: SiteQuality
SIO_000300: 3.47e0

GenotypeQuality
all individuals: 3152
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30005
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 145
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.719e0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.38e-2

QD
type: SiteQuality
SIO_000300: 2.344e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.64728e5

GenotypeQuality
all individuals: 614
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 1.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 79
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30005
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.719e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.38e-2

QD
type: SiteQuality
SIO_000300: 2.344e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 2.64728e5

GenotypeQuality
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
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variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5054
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.202e1

DP
type: SiteQuality
SIO_000300: 2.56142e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.91e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

GenotypeQuality
all individuals: 290
bin: 4.75e1
variant carriers: 284

GenotypeQuality
all individuals: 368
bin: 3.75e1
variant carriers: 343

GenotypeQuality
all individuals: 329
bin: 6.75e1
variant carriers: 310

GenotypeQuality
all individuals: 10528
bin: 7.5e0
variant carriers: 4785

GenotypeQuality
all individuals: 3109
bin: 9.75e1
variant carriers: 3107

GenotypeQuality
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bin: 8.25e1
variant carriers: 216

GenotypeQuality
all individuals: 1524
bin: 2.75e1
variant carriers: 1479

GenotypeQuality
all individuals: 618
bin: 5.75e1
variant carriers: 612

Other
type: Population
allele count: 54
allele frequency: 5.74468085106383e-1
allele num: 94
num of homozygotes: 14

European (Non-Finnish)
type: Population
allele count: 3382
allele frequency: 6.483895705521472e-1
allele num: 5216
num of homozygotes: 1032

African
type: Population
allele count: 1343
allele frequency: 9.444444444444444e-1
allele num: 1422
num of homozygotes: 636

South Asian
type: Population
allele count: 445
allele frequency: 6.974921630094044e-1
allele num: 638
num of homozygotes: 148

Latino
type: Population
allele count: 251
allele frequency: 6.469072164948454e-1
allele num: 388
num of homozygotes: 74

East Asian
type: Population
allele count: 329
allele frequency: 6.400778210116731e-1
allele num: 514
num of homozygotes: 101

European (Finnish)
type: Population
allele count: 314
allele frequency: 6.382113821138211e-1
allele num: 492
num of homozygotes: 93

VQSLOD
type: SiteQuality
SIO_000300: 1.358e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.52857e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.886e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.046e-1

GenotypeQuality
all individuals: 1951
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 116
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GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 3893
bin: 2.25e1
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GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3332
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.578e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.72e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.80369e5

QD
type: SiteQuality
SIO_000300: 7.58e0

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

GenotypeQuality
all individuals: 381
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 104
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.063e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.96e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.115e0

DP
type: SiteQuality
SIO_000300: 1.71823e5

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 826
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3401
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 376
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.96e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.529e0

QD
type: SiteQuality
SIO_000300: 2.909e1

DP
type: SiteQuality
SIO_000300: 1.7141e5

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 131
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51128
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.03e0

FS
type: SiteQuality
SIO_000300: 2.378e0

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.188e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.785308e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.195e0

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51129
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999940001199976e-5
allele num: 66668
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.099e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.442e0

MQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

QD
type: SiteQuality
SIO_000300: 1.161e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

DP
type: SiteQuality
SIO_000300: 7.785697e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3425
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51129
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 622
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999940001199976e-5
allele num: 66668
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 2.099e0

MQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 7.785697e6

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.442e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

QD
type: SiteQuality
SIO_000300: 1.161e1

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51135
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 631
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

QD
type: SiteQuality
SIO_000300: 1.002e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 3.794e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 7.787425e6

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 634
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.826e0

MQRankSum
type: SiteQuality
SIO_000300: -7.97e-1

DP
type: SiteQuality
SIO_000300: 7.78743e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.272e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

FS
type: SiteQuality
SIO_000300: 1.2461e1

QD
type: SiteQuality
SIO_000300: 1.033e1

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51136
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3865
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.418e0

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.14e-1

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.24e-1

DP
type: SiteQuality
SIO_000300: 7.787535e6

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999490086685263e-5
allele num: 66678
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.788967e6

VQSLOD
type: SiteQuality
SIO_000300: -5.829e-1

FS
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.486e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

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

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3993
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.346e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 4.073e0

MQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

MQ
type: SiteQuality
SIO_000300: 5.885e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.84e0

DP
type: SiteQuality
SIO_000300: 7.788785e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.203e0

GenotypeQuality
all individuals: 870
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
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GenotypeQuality
all individuals: 41
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GenotypeQuality
all individuals: 872
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 650
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 49
allele frequency: 7.347869117955793e-4
allele num: 66686
num of homozygotes: 1

South Asian
type: Population
allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.91085003455425e-4
allele num: 11576
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.244e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.7e0

QD
type: SiteQuality
SIO_000300: 1.298e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

DP
type: SiteQuality
SIO_000300: 7.792046e6

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 518
bin: 8.25e1
variant carriers: 28

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 54075
bin: 9.75e1
variant carriers: 27816

GenotypeQuality
all individuals: 357
bin: 8.75e1
variant carriers: 17

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 7.25e1
variant carriers: 7

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 4

South Asian
type: Population
allele count: 4576
allele frequency: 2.771653543307087e-1
allele num: 16510
num of homozygotes: 686

Other
type: Population
allele count: 263
allele frequency: 2.902869757174393e-1
allele num: 906
num of homozygotes: 35

African
type: Population
allele count: 2399
allele frequency: 2.305843906189927e-1
allele num: 10404
num of homozygotes: 283

European (Non-Finnish)
type: Population
allele count: 18495
allele frequency: 2.772863568215892e-1
allele num: 66700
num of homozygotes: 2601

European (Finnish)
type: Population
allele count: 2086
allele frequency: 3.153915935893559e-1
allele num: 6614
num of homozygotes: 323

East Asian
type: Population
allele count: 2090
allele frequency: 2.422345850718591e-1
allele num: 8628
num of homozygotes: 255

Latino
type: Population
allele count: 2526
allele frequency: 2.182100898410504e-1
allele num: 11576
num of homozygotes: 270

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 6.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

DP
type: SiteQuality
SIO_000300: 8.06087e6

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

QD
type: SiteQuality
SIO_000300: 1.624e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

GenotypeQuality
all individuals: 6001
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48635
bin: 9.75e1
variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.814186e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.078e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.586e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.303e1

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 927
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48633
bin: 9.75e1
variant carriers: 143

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.634161114476075e-4
allele num: 16510
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

East Asian
type: Population
allele count: 135
allele frequency: 1.560332871012483e-2
allele num: 8652
num of homozygotes: 2

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498560460652591e-5
allele num: 66688
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.399e1

DP
type: SiteQuality
SIO_000300: 3.813888e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.58e-2

FS
type: SiteQuality
SIO_000300: 5.31e-1

GenotypeQuality
all individuals: 48620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 633
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6056
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.99e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 3.790195e6

FS
type: SiteQuality
SIO_000300: 3.284e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.378e1

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

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48620
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1630
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6056
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 3.790195e6

FS
type: SiteQuality
SIO_000300: 3.284e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.378e1

MQ
type: SiteQuality
SIO_000300: 5.99e1

GenotypeQuality
all individuals: 931
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6061
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 3.789848e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.898e0

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

QD
type: SiteQuality
SIO_000300: 2.209e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

FS
type: SiteQuality
SIO_000300: 7.635e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e-1

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

GenotypeQuality
all individuals: 629
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6065
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 3.789648e6

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.173e0

MQRankSum
type: SiteQuality
SIO_000300: -7.33e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

FS
type: SiteQuality
SIO_000300: 2.044e0

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

GenotypeQuality
all individuals: 48621
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 626
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.777675063554426e-4
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.424e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.969e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

DP
type: SiteQuality
SIO_000300: 3.789505e6

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6079
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: -1.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.03e-1

FS
type: SiteQuality
SIO_000300: 2.479e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.31e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.255e1

DP
type: SiteQuality
SIO_000300: 3.788755e6

GenotypeQuality
all individuals: 6079
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.424242424242424e-4
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.45e-1

DP
type: SiteQuality
SIO_000300: 3.788755e6

FS
type: SiteQuality
SIO_000300: 2.479e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.255e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48618
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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: 16500
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: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.597e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.788169e6

BaseQRankSum
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16482
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
allele num: 8654
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.78753e6

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

ClippingRankSum
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MQRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

South Asian
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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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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

Other
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num of homozygotes: 0

MQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

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

South Asian
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allele frequency: 6.078288353999514e-5
allele num: 16452
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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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BaseQRankSum
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FS
type: SiteQuality
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VQSLOD
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DP
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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QD
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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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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variant carriers: 0

East Asian
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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: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10400
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
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: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.152e0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10398
num of homozygotes: 0

Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.24e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16328
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
allele num: 8652
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
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

QD
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ClippingRankSum
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DP
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MQ
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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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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South Asian
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allele frequency: 6.922331441229406e-5
allele num: 14446
num of homozygotes: 0

East Asian
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Other
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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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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DP
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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QD
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

Other
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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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allele frequency: 0.0e0
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European (Finnish)
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 65548
num of homozygotes: 0

Latino
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South Asian
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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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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.402e0

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

DP
type: SiteQuality
SIO_000300: 3.705311e6

FS
type: SiteQuality
SIO_000300: 2.148e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

QD
type: SiteQuality
SIO_000300: 1.451e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 48606
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 467
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525785779676533e-5
allele num: 65540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13312
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.921e1

DP
type: SiteQuality
SIO_000300: 3.70252e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

FS
type: SiteQuality
SIO_000300: 3.294e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.01e-1

QD
type: SiteQuality
SIO_000300: 1.574e1

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 790
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 8.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 4.003202562049639e-4
allele num: 12490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.127826459954654e-5
allele num: 65276
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

FS
type: SiteQuality
SIO_000300: 7.88e-1

DP
type: SiteQuality
SIO_000300: 3.692256e6

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.618e0

QD
type: SiteQuality
SIO_000300: 1.193e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 192
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532942943863629e-5
allele num: 65234
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 3.689789e6

QD
type: SiteQuality
SIO_000300: 9.51e0

FS
type: SiteQuality
SIO_000300: 2.875e0

VQSLOD
type: SiteQuality
SIO_000300: -1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.48e-1

GenotypeQuality
all individuals: 428
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 781
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11688
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73550850399167e-4
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.682811e6

QD
type: SiteQuality
SIO_000300: 1.524e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-1

FS
type: SiteQuality
SIO_000300: 1.234e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

GenotypeQuality
all individuals: 295
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1521
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48600
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539171925504079e-5
allele num: 64970
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.681723e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.239e0

MQRankSum
type: SiteQuality
SIO_000300: -1.554e0

VQSLOD
type: SiteQuality
SIO_000300: -1.612e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e0

QD
type: SiteQuality
SIO_000300: 1.379e1

FS
type: SiteQuality
SIO_000300: 9.016999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.85e-1

GenotypeQuality
all individuals: 1232
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48601
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 600
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546216408448527e-5
allele num: 64674
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.399e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.446e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.673874e6

QD
type: SiteQuality
SIO_000300: 4.03e0

GenotypeQuality
all individuals: 386
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.428625306430322e-5
allele num: 10606
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

VQSLOD
type: SiteQuality
SIO_000300: 3.94e-1

FS
type: SiteQuality
SIO_000300: 1.815e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 1.316e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

DP
type: SiteQuality
SIO_000300: 3.670494e6

GenotypeQuality
all individuals: 493
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48593
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 596
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549234678069034e-5
allele num: 64548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.669396e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.831e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

VQSLOD
type: SiteQuality
SIO_000300: 8.88e-1

GenotypeQuality
all individuals: 1104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.514747859181732e-5
allele num: 10510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64548
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.367e1

DP
type: SiteQuality
SIO_000300: 3.669396e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.831e0

VQSLOD
type: SiteQuality
SIO_000300: 8.88e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
all individuals: 1594
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48592
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64480
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.671179883945841e-5
allele num: 10340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.59e0

MQRankSum
type: SiteQuality
SIO_000300: -1.043e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.667581e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.333e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.355e1

GenotypeQuality
all individuals: 282
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48592
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 282
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.652605459057072e-5
allele num: 64480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.043e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.333e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

DP
type: SiteQuality
SIO_000300: 3.667581e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.59e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.355e1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeQuality
all individuals: 350
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551445947623185e-5
allele num: 64456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.372e1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.741e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.98e-1

DP
type: SiteQuality
SIO_000300: 3.666656e6

MQRankSum
type: SiteQuality
SIO_000300: 4.96e-1

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4478
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-5
allele num: 66000
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.688156e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.528e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.71e-1

GenotypeQuality
all individuals: 995
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41176
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4880
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513912859175826e-5
allele num: 66054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.690656e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

FS
type: SiteQuality
SIO_000300: 1.506e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.517e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.352e0

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e0

GenotypeQuality
all individuals: 994
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2095
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14930
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: 1
allele frequency: 1.136363636363636e-3
allele num: 880
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66046
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.355e0

DP
type: SiteQuality
SIO_000300: 4.694241e6

QD
type: SiteQuality
SIO_000300: 1.071e1

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.62e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

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

GenotypeQuality
all individuals: 1907
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41177
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1164
bin: 8.75e1
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: 10346
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.697923643670462e-5
allele num: 14930
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.326756663205261e-4
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514096235956757e-5
allele num: 66046
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.62e-1

QD
type: SiteQuality
SIO_000300: 1.071e1

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

FS
type: SiteQuality
SIO_000300: 1.355e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 4.694241e6

GenotypeQuality
all individuals: 1092
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41174
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 3
allele frequency: 1.984914648670107e-4
allele num: 15114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512813530604218e-5
allele num: 66102
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

MQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

FS
type: SiteQuality
SIO_000300: 6.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

DP
type: SiteQuality
SIO_000300: 4.696914e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.386e1

GenotypeQuality
all individuals: 1930
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41180
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2353
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.359639846511769e-4
allele num: 66194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15344
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.64e-1

DP
type: SiteQuality
SIO_000300: 4.706146e6

QD
type: SiteQuality
SIO_000300: 1.188e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.491e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.52e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1