6-43592839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43592839
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43592839
    reference: chr 6
allele count: 10
allele frequency: 8.411560849231184e-5
allele num: 118884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.603-40G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.442-40G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.568G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.589-40G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.706-40G>A
  variant of: http://identifiers.org/hgnc/4670
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11274
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11294
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4098
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4735
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/6-43592840-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43592840
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43592840
    reference: chr 6
allele count: 1
allele frequency: 8.410146000134562e-6
allele num: 118904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.589-41G>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.706-41G>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.603-41G>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.442-41G>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.567G>T
  variant of: http://identifiers.org/hgnc/4670
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4091
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11376
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5816
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

6-43593059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593059
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593059
    reference: chr 6
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.705+41G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.348G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.602+41G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.588+41G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.441+41G>A
  variant of: http://identifiers.org/hgnc/4670
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33407
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4970
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

6-43593069-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593069
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593069
    reference: chr 6
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.705+31C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.441+31C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.338C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.588+31C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.602+31C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4968
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

6-43593071-CCCCATTGGGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593071
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593061
    reference: chr 6
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  variant of: http://identifiers.org/hgnc/4670
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4967
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9469
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: CCCCATTGGGT
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

6-43593076-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593076
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593076
    reference: chr 6
allele count: 6
allele frequency: 4.948616861587186e-5
allele num: 121246
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.705+24A>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.588+24A>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.602+24A>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.441+24A>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.331A>G
  variant of: http://identifiers.org/hgnc/4670
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD

6-43593077-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593077
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593077
    reference: chr 6
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.330A>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.588+23A>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.602+23A>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.441+23A>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.705+23A>T
  variant of: http://identifiers.org/hgnc/4670
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4962
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9497
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

6-43593080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593080
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593080
    reference: chr 6
allele count: 3
allele frequency: 2.473777953690877e-5
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.327C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.705+20C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.602+20C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.588+20C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.441+20C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4961
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

6-43593085-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593085
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593085
    reference: chr 6
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.322T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.588+15T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.602+15T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.441+15T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.705+15T>C
  variant of: http://identifiers.org/hgnc/4670
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  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: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4959
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

6-43593086-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593086
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593086
    reference: chr 6
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.602+14A>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.705+14A>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.588+14A>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.321A>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.441+14A>G
  variant of: http://identifiers.org/hgnc/4670
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34450
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

6-43593093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593093
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593093
    reference: chr 6
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.441+7G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.602+7G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.588+7G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.314G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.705+7G>A
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  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: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 7.75e1
  variant carriers: 0
hgvs: c.705+7G>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

6-43593113-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593113
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593113
    reference: chr 6
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.294A>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.589A>C
  hgvsp: ENSP00000411358.1:p.Asn197Thr
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.668A>C
  hgvsp: ENSP00000410676.1:p.Asn223Thr
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.575A>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.692A>C
  hgvsp: ENSP00000303997.5:p.Asn231Thr
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.428A>C
  hgvsp: ENSP00000304893.7:p.Asn143Thr
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4959
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn231Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

6-43593130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593130
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593130
    reference: chr 6
allele count: 6
allele frequency: 4.942583653228331e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.411C>T
  hgvsp: ENST00000307114.7:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.651C>T
  hgvsp: ENST00000452781.1:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.572C>T
  hgvsp: ENST00000442748.1:c.572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.277C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.675C>T
  hgvsp: ENST00000307126.5:c.675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.558C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4958
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  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: 2320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe225Phe
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

6-43593145-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593145
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593145
    reference: chr 6
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.636C>T
  hgvsp: ENST00000452781.1:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.543C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.660C>T
  hgvsp: ENST00000307126.5:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.557C>T
  hgvsp: ENST00000442748.1:c.557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.396C>T
  hgvsp: ENST00000307114.7:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.262C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr220Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-43593150-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593150
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593150
    reference: chr 6
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.257C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.552C>T
  hgvsp: ENSP00000411358.1:p.Arg185Ter
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.631C>T
  hgvsp: ENSP00000410676.1:p.Arg211Ter
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.655C>T
  hgvsp: ENSP00000303997.5:p.Arg219Ter
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.391C>T
  hgvsp: ENSP00000304893.7:p.Arg131Ter
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.538C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4954
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34704
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg219Ter
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

6-43593162-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593162
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593162
    reference: chr 6
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.643A>G
  hgvsp: ENSP00000303997.5:p.Ile215Val
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.619A>G
  hgvsp: ENSP00000410676.1:p.Ile207Val
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.526A>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.245A>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.540A>G
  hgvsp: ENSP00000411358.1:p.Ile181Val
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.379A>G
  hgvsp: ENSP00000304893.7:p.Ile127Val
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34709
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile215Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ

6-43593171-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593171
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593171
    reference: chr 6
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.634C>T
  hgvsp: ENST00000307126.5:c.634C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.531C>T
  hgvsp: ENST00000442748.1:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.517C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.610C>T
  hgvsp: ENST00000452781.1:c.610C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.236C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.370C>T
  hgvsp: ENST00000307114.7:c.370C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu212Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

6-43593177-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593177
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593177
    reference: chr 6
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.364C>T
  hgvsp: ENSP00000304893.7:p.Arg122Cys
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.525C>T
  hgvsp: ENSP00000411358.1:p.Arg176Cys
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.604C>T
  hgvsp: ENSP00000410676.1:p.Arg202Cys
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.628C>T
  hgvsp: ENSP00000303997.5:p.Arg210Cys
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.230C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.511C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13721
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  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: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg210Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

6-43593179-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593179
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593179
    reference: chr 6
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.228T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.602T>C
  hgvsp: ENSP00000410676.1:p.Phe201Ser
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.362T>C
  hgvsp: ENSP00000304893.7:p.Phe121Ser
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.626T>C
  hgvsp: ENSP00000303997.5:p.Phe209Ser
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.523T>C
  hgvsp: ENSP00000411358.1:p.Phe175Ser
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.509T>C
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe209Ser
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

6-43593190-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593190
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593190
    reference: chr 6
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.512G>A
  hgvsp: ENST00000442748.1:c.512G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.591G>A
  hgvsp: ENST00000452781.1:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.498G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.351G>A
  hgvsp: ENST00000307114.7:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.615G>A
  hgvsp: ENST00000307126.5:c.615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.217G>A
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34650
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg205Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS

6-43593191-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593191
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593191
    reference: chr 6
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.350G>A
  hgvsp: ENSP00000304893.7:p.Arg117Gln
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.511G>A
  hgvsp: ENSP00000411358.1:p.Arg171Gln
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.216G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.590G>A
  hgvsp: ENSP00000410676.1:p.Arg197Gln
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.614G>A
  hgvsp: ENSP00000303997.5:p.Arg205Gln
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.497G>A
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  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: 9542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg205Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

6-43593192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593192
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593192
    reference: chr 6
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.589C>T
  hgvsp: ENSP00000410676.1:p.Arg197Trp
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.613C>T
  hgvsp: ENSP00000303997.5:p.Arg205Trp
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.510C>T
  hgvsp: ENSP00000411358.1:p.Arg171Trp
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.215C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.349C>T
  hgvsp: ENSP00000304893.7:p.Arg117Trp
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.496C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4947
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34667
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg205Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

6-43593198-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593198
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593198
    reference: chr 6
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.607C>T
  hgvsp: ENSP00000303997.5:p.Arg203Trp
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.490C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.209C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.343C>T
  hgvsp: ENSP00000304893.7:p.Arg115Trp
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.583C>T
  hgvsp: ENSP00000410676.1:p.Arg195Trp
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.504C>T
  hgvsp: ENSP00000411358.1:p.Arg169Trp
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9531
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg203Trp
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

6-43593204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593204
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593204
    reference: chr 6
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.337C>T
  hgvsp: ENSP00000304893.7:p.Arg113Trp
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.203C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.498C>T
  hgvsp: ENSP00000411358.1:p.Arg167Trp
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.601C>T
  hgvsp: ENSP00000303997.5:p.Arg201Trp
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.577C>T
  hgvsp: ENSP00000410676.1:p.Arg193Trp
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.484C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4945
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg201Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

6-43593232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593232
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593232
    reference: chr 6
allele count: 3
allele frequency: 2.471454698235381e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.309C>T
  hgvsp: ENST00000307114.7:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.470C>T
  hgvsp: ENST00000442748.1:c.470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.573C>T
  hgvsp: ENST00000307126.5:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.175C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.456C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.549C>T
  hgvsp: ENST00000452781.1:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val191Val
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

6-43593256-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593256
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593256
    reference: chr 6
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.432T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.151T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.446T>C
  hgvsp: ENST00000442748.1:c.446T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.549T>C
  hgvsp: ENST00000307126.5:c.549T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.285T>C
  hgvsp: ENST00000307114.7:c.285T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.525T>C
  hgvsp: ENST00000452781.1:c.525T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4921
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser183Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

http://identifiers.org/exac.variant/6-43593258-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593258
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593258
    reference: chr 6
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.444T>G
  hgvsp: ENSP00000411358.1:p.Ser149Ala
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.149T>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.283T>G
  hgvsp: ENSP00000304893.7:p.Ser95Ala
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.430T>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.523T>G
  hgvsp: ENSP00000410676.1:p.Ser175Ala
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.547T>G
  hgvsp: ENSP00000303997.5:p.Ser183Ala
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser183Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/6-43593261-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593261
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593261
    reference: chr 6
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.544G>T
  hgvsp: ENSP00000303997.5:p.Asp182Tyr
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.520G>T
  hgvsp: ENSP00000410676.1:p.Asp174Tyr
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.441G>T
  hgvsp: ENSP00000411358.1:p.Asp148Tyr
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.427G>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.146G>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.280G>T
  hgvsp: ENSP00000304893.7:p.Asp94Tyr
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3169
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp182Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

6-43593265-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593265
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593265
    reference: chr 6
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.276T>C
  hgvsp: ENST00000307114.7:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.423T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.437T>C
  hgvsp: ENST00000442748.1:c.437T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.516T>C
  hgvsp: ENST00000452781.1:c.516T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.142T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.540T>C
  hgvsp: ENST00000307126.5:c.540T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9513
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn180Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

6-43593267-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593267
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593267
    reference: chr 6
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.274A>G
  hgvsp: ENSP00000304893.7:p.Asn92Asp
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.140A>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.421A>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.514A>G
  hgvsp: ENSP00000410676.1:p.Asn172Asp
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.538A>G
  hgvsp: ENSP00000303997.5:p.Asn180Asp
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.435A>G
  hgvsp: ENSP00000411358.1:p.Asn146Asp
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4911
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn180Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

6-43593268-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593268
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593268
    reference: chr 6
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.273G>C
  hgvsp: ENST00000307114.7:c.273G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.139G>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.420G>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.513G>C
  hgvsp: ENST00000452781.1:c.513G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.434G>C
  hgvsp: ENST00000442748.1:c.434G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.537G>C
  hgvsp: ENST00000307126.5:c.537G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34540
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4909
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly179Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-43593282-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593282
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593282
    reference: chr 6
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.406G>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.259G>T
  hgvsp: ENSP00000304893.7:p.Val87Leu
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.499G>T
  hgvsp: ENSP00000410676.1:p.Val167Leu
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.523G>T
  hgvsp: ENSP00000303997.5:p.Val175Leu
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.420G>T
  hgvsp: ENSP00000411358.1:p.Val141Leu
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.125G>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13502
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4889
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3589
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9398
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val175Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

6-43593285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593285
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593285
    reference: chr 6
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.520C>T
  hgvsp: ENSP00000303997.5:p.Arg174Cys
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.256C>T
  hgvsp: ENSP00000304893.7:p.Arg86Cys
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.403C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.417C>T
  hgvsp: ENSP00000411358.1:p.Arg140Cys
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.122C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.496C>T
  hgvsp: ENSP00000410676.1:p.Arg166Cys
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4878
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg174Cys
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

6-43593289-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593289
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593289
    reference: chr 6
allele count: 61
allele frequency: 5.039573040762711e-4
allele num: 121042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.492C>T
  hgvsp: ENST00000452781.1:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.118C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.399C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.252C>T
  hgvsp: ENST00000307114.7:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.413C>T
  hgvsp: ENST00000442748.1:c.413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.516C>T
  hgvsp: ENST00000307126.5:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13271
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9437
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28415
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4886
  bin: 9.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34193
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp172Asp
num of homozygotes: 1
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

6-43593295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593295
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593295
    reference: chr 6
allele count: 1
allele frequency: 8.275268532463878e-6
allele num: 120842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.112C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.486C>T
  hgvsp: ENST00000452781.1:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.407C>T
  hgvsp: ENST00000442748.1:c.407C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.510C>T
  hgvsp: ENST00000307126.5:c.510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.393C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.246C>T
  hgvsp: ENST00000307114.7:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4823
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
hgvs: c.510C>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

6-43593317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593317
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593317
    reference: chr 6
allele count: 1
allele frequency: 8.386306838194597e-6
allele num: 119242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.110-20C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.391-20C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.484-20C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.508-20C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.244-20C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.405-20C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4794
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

6-43593319-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593319
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593319
    reference: chr 6
allele count: 1
allele frequency: 8.392077878482712e-6
allele num: 119160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.405-22A>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.110-22A>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.391-22A>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.508-22A>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.484-22A>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.244-22A>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4792
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/6-43593325-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593325
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593325
    reference: chr 6
allele count: 1
allele frequency: 8.429997302400863e-6
allele num: 118624
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.508-28G>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.405-28G>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.110-28G>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.244-28G>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.391-28G>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.484-28G>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6579
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3679
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

6-43593329-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593329
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593329
    reference: chr 6
allele count: 1
allele frequency: 8.440100605999223e-6
allele num: 118482
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.391-32T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.244-32T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.508-32T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.484-32T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.110-32T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.405-32T>C
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7867
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4787
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19506
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

6-43593338-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593338
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593338
    reference: chr 6
allele count: 6
allele frequency: 5.111254983473609e-5
allele num: 117388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.405-41G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.110-41G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.244-41G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.391-41G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.484-41G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.508-41G>A
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12381
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11723
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13199
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4538
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/6-43593343-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593343
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593343
    reference: chr 6
allele count: 1
allele frequency: 8.560324607509117e-6
allele num: 116818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.405-46G>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.484-46G>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.508-46G>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.110-46G>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.391-46G>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.244-46G>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13349
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5083
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4590
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4777
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4628
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

6-43593349-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593349
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593349
    reference: chr 6
allele count: 3
allele frequency: 2.577231022988901e-5
allele num: 116404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.508-52C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.484-52C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.391-52C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.110-52C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.405-52C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.244-52C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11459
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14392
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4522
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4998
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-43593443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593443
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593443
    reference: chr 6
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.507+50C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.404+50C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.390+50C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.243+50C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.483+50C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.109+50C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25508
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5645
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

6-43593454-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593454
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593454
    reference: chr 6
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.243+39G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.483+39G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.404+39G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.109+39G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.390+39G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.507+39G>A
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
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: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

6-43593455-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593455
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593455
    reference: chr 6
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.390+38T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.507+38T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.483+38T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.243+38T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.109+38T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.404+38T>C
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19179
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ

6-43593455-AGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593455
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593453
    reference: chr 6
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.507+36_507+37delAC
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.483+36_483+37delAC
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.404+36_404+37delAC
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.109+36_109+37delAC
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.243+36_243+37delAC
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.390+36_390+37delAC
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5612
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: AGT
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

6-43593456-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593456
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593456
    reference: chr 6
allele count: 2
allele frequency: 1.649566164098842e-5
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.483+37C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.109+37C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.404+37C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.390+37C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.243+37C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.507+37C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5613
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

6-43593457-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593457
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593457
    reference: chr 6
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.404+36A>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.390+36A>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.243+36A>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.507+36A>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.109+36A>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.483+36A>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5610
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3749
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

6-43593461-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593461
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593461
    reference: chr 6
allele count: 3
allele frequency: 2.474267616785431e-5
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.109+32C>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.483+32C>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.243+32C>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.390+32C>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.404+32C>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.507+32C>G
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3748
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ

6-43593465-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593465
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593465
    reference: chr 6
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.243+28A>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.483+28A>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.404+28A>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.109+28A>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.390+28A>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.507+28A>G
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7495
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

6-43593468-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593468
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593468
    reference: chr 6
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.483+25C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.390+25C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.109+25C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.404+25C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.243+25C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.507+25C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5606
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29326
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

6-43593470-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593470
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593470
    reference: chr 6
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.507+23C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.390+23C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.109+23C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.483+23C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.243+23C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.404+23C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5605
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3757
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

6-43593479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593479
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593479
    reference: chr 6
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.390+14C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.109+14C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.404+14C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.483+14C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.507+14C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.243+14C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
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genotype quality: GenotypeQuality
  all individuals: 10535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ

6-43593480-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593480
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593480
    reference: chr 6
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.243+13C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.390+13C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.109+13C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.483+13C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.404+13C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.507+13C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19747
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5606
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum

6-43593487-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593487
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593487
    reference: chr 6
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.483+6C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.507+6C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.109+6C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.243+6C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.404+6C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.390+6C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4581
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
hgvs: c.507+6C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

6-43593493-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593493
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593493
    reference: chr 6
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.507G>A
  hgvsp: ENST00000307126.5:c.507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.404G>A
  hgvsp: ENST00000442748.1:c.404G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.483G>A
  hgvsp: ENST00000452781.1:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.243G>A
  hgvsp: ENST00000307114.7:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.390G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.109G>A
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5603
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4578
  bin: 7.75e1
  variant carriers: 0
hgvs: c.507G>A
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

6-43593496-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593496
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593496
    reference: chr 6
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.504A>G
  hgvsp: ENST00000307126.5:c.504A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.240A>G
  hgvsp: ENST00000307114.7:c.240A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.387A>G
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.401A>G
  hgvsp: ENST00000442748.1:c.401A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.480A>G
  hgvsp: ENST00000452781.1:c.480A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.106A>G
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5603
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln168Gln
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

6-43593511-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593511
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593511
    reference: chr 6
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.91G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.386G>A
  hgvsp: ENST00000442748.1:c.386G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.225G>A
  hgvsp: ENST00000307114.7:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.465G>A
  hgvsp: ENST00000452781.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.489G>A
  hgvsp: ENST00000307126.5:c.489G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.372G>A
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4579
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3767
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys163Lys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

6-43593515-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593515
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593515
    reference: chr 6
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.461G>A
  hgvsp: ENSP00000410676.1:p.Arg154Gln
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.485G>A
  hgvsp: ENSP00000303997.5:p.Arg162Gln
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.221G>A
  hgvsp: ENSP00000304893.7:p.Arg74Gln
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.368G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.87G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.382G>A
  hgvsp: ENSP00000411358.1:p.Arg128Gln
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29726
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4579
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg162Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

6-43593519-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593519
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593519
    reference: chr 6
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.481G>A
  hgvsp: ENSP00000303997.5:p.Val161Ile
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.217G>A
  hgvsp: ENSP00000304893.7:p.Val73Ile
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.83G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.457G>A
  hgvsp: ENSP00000410676.1:p.Val153Ile
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.364G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.378G>A
  hgvsp: ENSP00000411358.1:p.Val127Ile
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29734
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val161Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

6-43593522-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593522
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593522
    reference: chr 6
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.375C>T
  hgvsp: ENST00000442748.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.478C>T
  hgvsp: ENST00000307126.5:c.478C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.361C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.80C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.214C>T
  hgvsp: ENST00000307114.7:c.214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.454C>T
  hgvsp: ENST00000452781.1:c.454C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5601
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu160Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum

6-43593526-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593526
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593526
    reference: chr 6
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.371G>A
  hgvsp: ENST00000442748.1:c.371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.210G>A
  hgvsp: ENST00000307114.7:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.450G>A
  hgvsp: ENST00000452781.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.357G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.474G>A
  hgvsp: ENST00000307126.5:c.474G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.76G>A
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu158Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

6-43593529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593529
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593529
    reference: chr 6
allele count: 34
allele frequency: 2.800843548174509e-4
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.207C>T
  hgvsp: ENST00000307114.7:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.354C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.368C>T
  hgvsp: ENST00000442748.1:c.368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.447C>T
  hgvsp: ENST00000452781.1:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.73C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.471C>T
  hgvsp: ENST00000307126.5:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5620
  bin: 9.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29734
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr157Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

6-43593543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593543
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593543
    reference: chr 6
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.340C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.59C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.193C>T
  hgvsp: ENSP00000304893.7:p.Pro65Ser
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.457C>T
  hgvsp: ENSP00000303997.5:p.Pro153Ser
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.354C>T
  hgvsp: ENSP00000411358.1:p.Pro119Ser
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.433C>T
  hgvsp: ENSP00000410676.1:p.Pro145Ser
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5590
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro153Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

6-43593549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593549
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593549
    reference: chr 6
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.187G>A
  hgvsp: ENSP00000304893.7:p.Asp63Asn
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.348G>A
  hgvsp: ENSP00000411358.1:p.Asp117Asn
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.427G>A
  hgvsp: ENSP00000410676.1:p.Asp143Asn
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.451G>A
  hgvsp: ENSP00000303997.5:p.Asp151Asn
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.53G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.334G>A
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4561
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp151Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-43593550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593550
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593550
    reference: chr 6
allele count: 494
allele frequency: 4.070466867718067e-3
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.426C>T
  hgvsp: ENST00000452781.1:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.333C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.186C>T
  hgvsp: ENST00000307114.7:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.347C>T
  hgvsp: ENST00000442748.1:c.347C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.450C>T
  hgvsp: ENST00000307126.5:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.52C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19766
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 15355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 9.75e1
  variant carriers: 337
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: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10514
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5789
  bin: 9.75e1
  variant carriers: 481
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29717
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser150Ser
num of homozygotes: 12
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ

6-43593553-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593553
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593553
    reference: chr 6
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.49T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.330T>C
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.183T>C
  hgvsp: ENST00000307114.7:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.423T>C
  hgvsp: ENST00000452781.1:c.423T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.344T>C
  hgvsp: ENST00000442748.1:c.344T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.447T>C
  hgvsp: ENST00000307126.5:c.447T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp149Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

6-43593555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593555
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593555
    reference: chr 6
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.47G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.445G>A
  hgvsp: ENSP00000303997.5:p.Asp149Asn
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.342G>A
  hgvsp: ENSP00000411358.1:p.Asp115Asn
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.181G>A
  hgvsp: ENSP00000304893.7:p.Asp61Asn
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.421G>A
  hgvsp: ENSP00000410676.1:p.Asp141Asn
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.328G>A
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  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
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp149Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

6-43593562-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593562
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593562
    reference: chr 6
allele count: 5
allele frequency: 4.121060266385336e-5
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.438G>A
  hgvsp: ENST00000307126.5:c.438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.174G>A
  hgvsp: ENST00000307114.7:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.414G>A
  hgvsp: ENST00000452781.1:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.335G>A
  hgvsp: ENST00000442748.1:c.335G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.40G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.321G>A
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3766
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5385
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Val146Val
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: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

6-43593569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593569
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593569
    reference: chr 6
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.167G>A
  hgvsp: ENSP00000304893.7:p.Arg56Gln
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.33G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.407G>A
  hgvsp: ENSP00000410676.1:p.Arg136Gln
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.328G>A
  hgvsp: ENSP00000411358.1:p.Arg110Gln
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.431G>A
  hgvsp: ENSP00000303997.5:p.Arg144Gln
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.314G>A
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg144Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

6-43593571-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593571
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593571
    reference: chr 6
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.326G>A
  hgvsp: ENST00000442748.1:c.326G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.312G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.165G>A
  hgvsp: ENST00000307114.7:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.405G>A
  hgvsp: ENST00000452781.1:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.31G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.429G>A
  hgvsp: ENST00000307126.5:c.429G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5380
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu143Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

6-43593573-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593573
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593573
    reference: chr 6
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.163G>A
  hgvsp: ENSP00000304893.7:p.Glu55Lys
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.403G>A
  hgvsp: ENSP00000410676.1:p.Glu135Lys
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.29G>A
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.324G>A
  hgvsp: ENSP00000411358.1:p.Glu109Lys
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.427G>A
  hgvsp: ENSP00000303997.5:p.Glu143Lys
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.310G>A
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5380
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3766
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4563
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu143Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

6-43593576-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43593576
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43593576
    reference: chr 6
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000480263
  gene symbol: GTPBP2
  hgvsc: ENST00000480263.1:n.26C>T
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000303997
  ensembl transcript: ENST00000307126
  gene symbol: GTPBP2
  hgvsc: ENST00000307126.5:c.424C>T
  hgvsp: ENSP00000303997.5:p.Arg142Ter
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000410676
  ensembl transcript: ENST00000452781
  gene symbol: GTPBP2
  hgvsc: ENST00000452781.1:c.400C>T
  hgvsp: ENSP00000410676.1:p.Arg134Ter
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000411358
  ensembl transcript: ENST00000442748
  gene symbol: GTPBP2
  hgvsc: ENST00000442748.1:c.321C>T
  hgvsp: ENSP00000411358.1:p.Arg108Ter
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172432
  ensembl protein: ENSP00000304893
  ensembl transcript: ENST00000307114
  gene symbol: GTPBP2
  hgvsc: ENST00000307114.7:c.160C>T
  hgvsp: ENSP00000304893.7:p.Arg54Ter
  variant of: http://identifiers.org/hgnc/4670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172432
  ensembl transcript: ENST00000476510
  gene symbol: GTPBP2
  hgvsc: ENST00000476510.1:n.307C>T
  variant of: http://identifiers.org/hgnc/4670
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3767
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg142Ter
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 1887
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10155
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11386
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2416
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 9
allele frequency: 8.737864077669903e-4
allele num: 10300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65794
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.703220191470844e-5
allele num: 11490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.359e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.930999e6

FS
type: SiteQuality
SIO_000300: 8.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.65e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.048e0

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
all individuals: 1952
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4714
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65810
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.415999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.464e0

QD
type: SiteQuality
SIO_000300: 6.97e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.929103e6

GenotypeQuality
all individuals: 3171
bin: 7.25e1
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: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
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: 10388
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.820782e6

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.178e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

QD
type: SiteQuality
SIO_000300: 1.201e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 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: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 16418
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.255e0

FS
type: SiteQuality
SIO_000300: 1.412e0

VQSLOD
type: SiteQuality
SIO_000300: 8.45e-1

DP
type: SiteQuality
SIO_000300: 1.825349e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.57e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

MQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.96e-1

GenotypeQuality
all individuals: 1282
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
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: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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

DP
type: SiteQuality
SIO_000300: 1.826673e6

QD
type: SiteQuality
SIO_000300: 4.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.072e0

VQSLOD
type: SiteQuality
SIO_000300: -8.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

FS
type: SiteQuality
SIO_000300: 8.574e0

MQ
type: SiteQuality
SIO_000300: 5.175e1

MQRankSum
type: SiteQuality
SIO_000300: -9.275e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 66650
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.806767929244376e-4
allele num: 10402
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 1.828635e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

MQRankSum
type: SiteQuality
SIO_000300: -2.93e-1

FS
type: SiteQuality
SIO_000300: 1.199e0

QD
type: SiteQuality
SIO_000300: 1.383e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 16442
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.886e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.308e0

VQSLOD
type: SiteQuality
SIO_000300: -1.15e0

FS
type: SiteQuality
SIO_000300: 8.164999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.869e0

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.461e1

DP
type: SiteQuality
SIO_000300: 1.828335e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500585076059888e-5
allele num: 66658
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.204e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.829874e6

FS
type: SiteQuality
SIO_000300: 2.604e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.677e0

VQSLOD
type: SiteQuality
SIO_000300: 2.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

QD
type: SiteQuality
SIO_000300: 1.201e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.28e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 11
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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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

European (Finnish)
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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

VQSLOD
type: SiteQuality
SIO_000300: 7.58e-1

QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

DP
type: SiteQuality
SIO_000300: 1.830405e6

QD
type: SiteQuality
SIO_000300: 1.625e1

FS
type: SiteQuality
SIO_000300: 8.42e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 1

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

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

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

Other
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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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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.63e-2

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66716
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Latino
type: Population
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

Other
type: Population
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African
type: Population
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East Asian
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allele num: 8652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.57e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.96e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

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

Latino
type: Population
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allele num: 11578
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

East Asian
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allele frequency: 5.779010633379565e-4
allele num: 8652
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.137e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.271e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

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

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

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

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: 66728
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: 908
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.374e1

VQSLOD
type: SiteQuality
SIO_000300: 7.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.744e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

FS
type: SiteQuality
SIO_000300: 2.054e0

DP
type: SiteQuality
SIO_000300: 1.832124e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.168e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

MQRankSum
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SIO_000300: 9.05e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

DP
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
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: 11578
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

MQRankSum
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InbreedingCoeff
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SIO_000300: 0.0e0

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.481e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

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

QD
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BaseQRankSum
type: SiteQuality
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VQSLOD
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DP
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FS
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.22e-1

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.011e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 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: 16512
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.831938e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

QD
type: SiteQuality
SIO_000300: 1.302e1

FS
type: SiteQuality
SIO_000300: 7.171e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.881e0

MQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.831773e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.352e0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.6745e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.86e0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.63e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
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DP
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 7.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.311e1

FS
type: SiteQuality
SIO_000300: 1.597e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.321e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.899e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-1

DP
type: SiteQuality
SIO_000300: 1.830797e6

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997691777331455e-5
allele num: 66718
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 1.829869e6

VQSLOD
type: SiteQuality
SIO_000300: 5.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

FS
type: SiteQuality
SIO_000300: 6.128e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.815e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.397e1

GenotypeQuality
all individuals: 9521
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1274
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.211e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.827e0

MQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.43e-1

DP
type: SiteQuality
SIO_000300: 1.828232e6

MQ
type: SiteQuality
SIO_000300: 5.806e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.154e0

GenotypeQuality
all individuals: 2301
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3629
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 971
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variant carriers: 0

GenotypeQuality
all individuals: 9519
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
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: 11570
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.424e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: -2.918e-1

QD
type: SiteQuality
SIO_000300: 1.423e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.606e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.828023e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.508e0

MQRankSum
type: SiteQuality
SIO_000300: -1.105e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeQuality
all individuals: 1273
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3625
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4918
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9514
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2298
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

FS
type: SiteQuality
SIO_000300: 3.933e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-2

QD
type: SiteQuality
SIO_000300: 1.122e1

VQSLOD
type: SiteQuality
SIO_000300: 8.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.272e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.827278e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3165
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4913
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 34585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2295
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.52e0

FS
type: SiteQuality
SIO_000300: 2.886e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.121e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.687e0

VQSLOD
type: SiteQuality
SIO_000300: 6.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-1

DP
type: SiteQuality
SIO_000300: 1.826606e6

GenotypeQuality
all individuals: 3621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34543
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9507
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 8.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.02e-1

DP
type: SiteQuality
SIO_000300: 1.826181e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

QD
type: SiteQuality
SIO_000300: 1.4e1

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 123
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9503
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variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2295
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99895036737142e-5
allele num: 66690
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.121e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 1.799e0

VQSLOD
type: SiteQuality
SIO_000300: -1.4e-1

DP
type: SiteQuality
SIO_000300: 1.826072e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.333e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.57e-1

GenotypeQuality
all individuals: 3135
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2262
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
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GenotypeQuality
all individuals: 1263
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variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
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: -1.872e0

FS
type: SiteQuality
SIO_000300: 2.026e0

VQSLOD
type: SiteQuality
SIO_000300: -2.005e0

QD
type: SiteQuality
SIO_000300: 9.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

MQ
type: SiteQuality
SIO_000300: 5.834e1

DP
type: SiteQuality
SIO_000300: 1.819416e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 955
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GenotypeQuality
all individuals: 151
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3572
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.19e-1

MQ
type: SiteQuality
SIO_000300: 5.867e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.111e0

QD
type: SiteQuality
SIO_000300: 4.56e0

FS
type: SiteQuality
SIO_000300: 3.635e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 1.814758e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2240
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9273
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3546
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3092
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

East Asian
type: Population
allele count: 61
allele frequency: 7.063455303381195e-3
allele num: 8636
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.528e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

DP
type: SiteQuality
SIO_000300: 1.811519e6

VQSLOD
type: SiteQuality
SIO_000300: 5.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.247e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

GenotypeQuality
all individuals: 142
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3061
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505479947007106e-5
allele num: 66424
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.821e0

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

DP
type: SiteQuality
SIO_000300: 1.800496e6

FS
type: SiteQuality
SIO_000300: 4.839e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 6.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.99e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

GenotypeQuality
all individuals: 1741
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7607
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variant carriers: 0

GenotypeQuality
all individuals: 2297
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.188495364868077e-4
allele num: 8414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65488
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.438e0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.276e1

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

DP
type: SiteQuality
SIO_000300: 1.6684e6

GenotypeQuality
all individuals: 761
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7549
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 579
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variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65452
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.537988311288834e-4
allele num: 6502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.108000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.621e-1

QD
type: SiteQuality
SIO_000300: 1.655e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.87e-1

DP
type: SiteQuality
SIO_000300: 1.65148e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

GenotypeQuality
all individuals: 921
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1890
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variant carriers: 0

GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
all individuals: 2567
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2075
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variant carriers: 0

GenotypeQuality
all individuals: 4792
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 9.75609756097561e-5
allele num: 10250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.725e0

DP
type: SiteQuality
SIO_000300: 1.580649e6

FS
type: SiteQuality
SIO_000300: 6.836e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.13e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

GenotypeQuality
all individuals: 4063
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
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variant carriers: 0

GenotypeQuality
all individuals: 2159
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 534
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GenotypeQuality
all individuals: 920
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537137235612395e-5
allele num: 65056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.312e0

QD
type: SiteQuality
SIO_000300: 7.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

FS
type: SiteQuality
SIO_000300: 9.766e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

DP
type: SiteQuality
SIO_000300: 1.56225e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.111e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.73e-1

MQ
type: SiteQuality
SIO_000300: 5.801e1

GenotypeQuality
all individuals: 3914
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3947
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 592
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variant carriers: 0

GenotypeQuality
all individuals: 5262
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variant carriers: 0

GenotypeQuality
all individuals: 4787
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2840
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.309831181727905e-5
allele num: 64448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16254
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.508384e6

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

FS
type: SiteQuality
SIO_000300: 3.437e0

QD
type: SiteQuality
SIO_000300: 1.309e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.162e0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 2905
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2968
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variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 8.75e1
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GenotypeQuality
all individuals: 5196
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8106
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.1441111923921e-5
allele num: 10936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: -6.13e-2

DP
type: SiteQuality
SIO_000300: 1.495951e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 5.454e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.799e0

QD
type: SiteQuality
SIO_000300: 1.033e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.12e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4780
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.692485766126509e-5
allele num: 63932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.83e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.332e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.933e1

FS
type: SiteQuality
SIO_000300: 3.224e0

DP
type: SiteQuality
SIO_000300: 1.494313e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.37e0

DP
type: SiteQuality
SIO_000300: 2.053267e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.134e0

QD
type: SiteQuality
SIO_000300: 1.573e1

VQSLOD
type: SiteQuality
SIO_000300: -1.765e0

FS
type: SiteQuality
SIO_000300: 2.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.102e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

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
all individuals: 183
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variant carriers: 0

GenotypeQuality
all individuals: 3736
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
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: 6604
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 7.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.478e0

DP
type: SiteQuality
SIO_000300: 2.061795e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 161
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GenotypeQuality
all individuals: 215
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

BaseQRankSum
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SIO_000300: 1.65e0

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.062409e6

FS
type: SiteQuality
SIO_000300: 6.968e0

MQ
type: SiteQuality
SIO_000300: 6.03e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.21e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele count: 2
allele frequency: 1.213592233009709e-4
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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MQ
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QD
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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ClippingRankSum
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SIO_000300: -3.98e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
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allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

DP
type: SiteQuality
SIO_000300: 2.063639e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-2

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.501665616278023e-5
allele num: 66642
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 904
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

DP
type: SiteQuality
SIO_000300: 2.065924e6

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.053e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16490
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.941e1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.068275e6

VQSLOD
type: SiteQuality
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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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variant carriers: 0

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

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

Other
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num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 9.615384615384615e-5
allele num: 10400
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MQ
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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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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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.06134076857801e-5
allele num: 16498
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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European (Non-Finnish)
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allele frequency: 1.499655079331754e-5
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Other
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allele num: 908
num of homozygotes: 0

Latino
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South Asian
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East Asian
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DP
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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African
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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allele num: 66690
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DP
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
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QD
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FS
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66702
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East Asian
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Latino
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African
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European (Finnish)
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South Asian
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Other
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MQ
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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QD
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InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
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FS
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

QD
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10404
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: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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DP
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

East Asian
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allele num: 8654
num of homozygotes: 0

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

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

VQSLOD
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DP
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FS
type: SiteQuality
SIO_000300: 2.127e0

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

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

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

Latino
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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FS
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MQ
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DP
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ReadPosRankSum
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

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

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.072e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-2

FS
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ReadPosRankSum
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MQ
type: SiteQuality
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BaseQRankSum
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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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bin: 9.25e1
variant carriers: 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 frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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MQ
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SIO_000300: 5.961e1

FS
type: SiteQuality
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BaseQRankSum
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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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bin: 9.75e1
variant carriers: 1

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

Other
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Latino
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African
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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ReadPosRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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MQ
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ClippingRankSum
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 2.997242536866083e-4
allele num: 66728
num of homozygotes: 0

South Asian
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East Asian
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African
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Other
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allele num: 908
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Latino
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allele count: 13
allele frequency: 1.123207188526007e-3
allele num: 11574
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

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

East Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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num of homozygotes: 0

South Asian
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Latino
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African
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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QD
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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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variant carriers: 2

European (Finnish)
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num of homozygotes: 0

South Asian
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Latino
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allele num: 11572
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Other
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European (Non-Finnish)
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allele num: 66718
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African
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East Asian
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FS
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QD
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 1.036985827860353e-3
allele num: 11572
num of homozygotes: 0

African
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allele frequency: 4.553330766268772e-2
allele num: 10388
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
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allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.494229443328637e-5
allele num: 66718
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.56e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.45e-1

DP
type: SiteQuality
SIO_000300: 2.110255e6

VQSLOD
type: SiteQuality
SIO_000300: 5.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

QD
type: SiteQuality
SIO_000300: 1.309e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10581
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
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

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 6.172e0

VQSLOD
type: SiteQuality
SIO_000300: -1.73e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: -1.108e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.201e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.477e1

DP
type: SiteQuality
SIO_000300: 2.063482e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

East Asian
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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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.461e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.063319e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.471e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.336e0

VQSLOD
type: SiteQuality
SIO_000300: 9.01e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 70
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10571
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

South Asian
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allele count: 5
allele frequency: 3.029201502483945e-4
allele num: 16506
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

QD
type: SiteQuality
SIO_000300: 8.890000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.689e0

DP
type: SiteQuality
SIO_000300: 2.062977e6

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29806
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.239e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

DP
type: SiteQuality
SIO_000300: 2.06181e6

QD
type: SiteQuality
SIO_000300: 1.623e1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

GenotypeQuality
all individuals: 121
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29802
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 9.25e1
variant carriers: 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: 11568
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.061505e6

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e-1

QD
type: SiteQuality
SIO_000300: 9.27e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3263
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.036e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
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