19-17448808-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448808
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448808
    reference: chr 19
allele count: 1
allele frequency: 9.130919118318451e-6
allele num: 109518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.19-9C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.149-9C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.467-9C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.207C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.54-9C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.54-9C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.148C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.298-9C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.308-9C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.854-9C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.163-9C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.414C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.54-9C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.19-9C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.120-9C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.54-9C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.37-9C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.54-9C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.109-9C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

19-17448809-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448809
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448809
    reference: chr 19
allele count: 1
allele frequency: 9.126252578166353e-6
allele num: 109574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.109-8G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.208G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.854-8G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.298-8G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.467-8G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.308-8G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.19-8G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.163-8G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.54-8G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.54-8G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.415G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.54-8G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.37-8G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.54-8G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.149-8G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.149G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.19-8G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.120-8G>A
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.54-8G>A
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

19-17448811-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448811
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448811
    reference: chr 19
allele count: 38
allele frequency: 3.465698703099064e-4
allele num: 109646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.54-6T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.149-6T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*47T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.54-6T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.210T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.417T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.467-6T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.54-6T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.298-6T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.308-6T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.54-6T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.151T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.854-6T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.37-6T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.120-6T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.54-6T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.163-6T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.19-6T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.109-6T>C
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.54-6T>C
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

19-17448819-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448819
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448819
    reference: chr 19
allele count: 1
allele frequency: 9.114773224442176e-6
allele num: 109712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.469T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.218T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.425T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.56T>A
  hgvsp: ENSP00000313818.7:p.Leu19Ter
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.56T>A
  hgvsp: ENSP00000351644.6:p.Leu19Ter
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.111T>A
  hgvsp: ENST00000601213.1:c.111T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.56T>A
  hgvsp: ENSP00000472156.1:p.Leu19Ter
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.159T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.39T>A
  hgvsp: ENST00000602165.1:c.39T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.300T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.56T>A
  hgvsp: ENSP00000471421.1:p.Leu19Ter
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.56T>A
  hgvsp: ENSP00000473150.1:p.Leu19Ter
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.122T>A
  hgvsp: ENSP00000354598.4:p.Leu41Ter
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.856T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.21T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.151T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.310T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.21T>A
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu19Ter
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

19-17448820-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448820
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448820
    reference: chr 19
allele count: 1
allele frequency: 9.115936480154606e-6
allele num: 109698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.301G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.857G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.123G>T
  hgvsp: ENSP00000354598.4:p.Leu41Phe
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.40G>T
  hgvsp: ENSP00000470109.1:p.Val14Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.57G>T
  hgvsp: ENSP00000471421.1:p.Leu19Phe
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.57G>T
  hgvsp: ENSP00000472156.1:p.Leu19Phe
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.22G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.152G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*56G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.57G>T
  hgvsp: ENSP00000473150.1:p.Leu19Phe
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.22G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.311G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.166G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.160G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.112G>T
  hgvsp: ENSP00000471657.1:p.Val38Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.57G>T
  hgvsp: ENSP00000351644.6:p.Leu19Phe
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.57G>T
  hgvsp: ENSP00000313818.7:p.Leu19Phe
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.470G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.426G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.219G>T
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu19Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

19-17448821-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448821
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448821
    reference: chr 19
allele count: 1
allele frequency: 9.11892907296967e-6
allele num: 109662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*57T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.58T>C
  hgvsp: ENSP00000472156.1:p.Cys20Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.58T>C
  hgvsp: ENSP00000313818.7:p.Cys20Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.220T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.153T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.58T>C
  hgvsp: ENSP00000473150.1:p.Cys20Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.41T>C
  hgvsp: ENSP00000470109.1:p.Val14Ala
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.471T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.113T>C
  hgvsp: ENSP00000471657.1:p.Val38Ala
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.167T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.58T>C
  hgvsp: ENSP00000471421.1:p.Cys20Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.124T>C
  hgvsp: ENSP00000354598.4:p.Cys42Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.161T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.23T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.312T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.58T>C
  hgvsp: ENSP00000351644.6:p.Cys20Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.427T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.302T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.23T>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.858T>C
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys20Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/19-17448825-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448825
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448825
    reference: chr 19
allele count: 3
allele frequency: 2.737326179787583e-5
allele num: 109596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.224C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.128C>A
  hgvsp: ENSP00000354598.4:p.Thr43Lys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.475C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.27C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*61C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.45C>A
  hgvsp: ENSP00000470109.1:p.His15Gln
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.62C>A
  hgvsp: ENSP00000351644.6:p.Thr21Lys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.62C>A
  hgvsp: ENSP00000472156.1:p.Thr21Lys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.171C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.157C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.306C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.316C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.117C>A
  hgvsp: ENSP00000471657.1:p.His39Gln
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.431C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.62C>A
  hgvsp: ENSP00000313818.7:p.Thr21Lys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.165C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.27C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.862C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.62C>A
  hgvsp: ENSP00000471421.1:p.Thr21Lys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.62C>A
  hgvsp: ENSP00000473150.1:p.Thr21Lys
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr21Lys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-17448826-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448826
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448826
    reference: chr 19
allele count: 1
allele frequency: 9.122922254456548e-6
allele num: 109614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.118G>A
  hgvsp: ENSP00000471657.1:p.Ala40Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.63G>A
  hgvsp: ENST00000598493.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*62G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.166G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.225G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.476G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.317G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.172G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.63G>A
  hgvsp: ENST00000324894.8:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.129G>A
  hgvsp: ENST00000361619.5:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.863G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.158G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.28G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.46G>A
  hgvsp: ENSP00000470109.1:p.Ala16Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.28G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.432G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.307G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.63G>A
  hgvsp: ENST00000600625.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.63G>A
  hgvsp: ENST00000594018.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.63G>A
  hgvsp: ENST00000358792.7:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala40Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

19-17448826-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448826
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448826
    reference: chr 19
allele count: 1
allele frequency: 9.122922254456548e-6
allele num: 109614
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.172G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.28G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.63G>C
  hgvsp: ENST00000594018.1:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.46G>C
  hgvsp: ENSP00000470109.1:p.Ala16Pro
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.432G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.118G>C
  hgvsp: ENSP00000471657.1:p.Ala40Pro
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.129G>C
  hgvsp: ENST00000361619.5:c.129G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.63G>C
  hgvsp: ENST00000358792.7:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.63G>C
  hgvsp: ENST00000600625.1:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.28G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.63G>C
  hgvsp: ENST00000324894.8:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.158G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.63G>C
  hgvsp: ENST00000598493.1:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.225G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.476G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.863G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*62G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.317G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.166G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.307G>C
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala40Pro
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

19-17448830-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448830
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448830
    reference: chr 19
allele count: 3
allele frequency: 2.738825591586328e-5
allele num: 109536
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.50C>G
  hgvsp: ENSP00000470109.1:p.Pro17Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.170C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.67C>G
  hgvsp: ENSP00000472156.1:p.Arg23Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*66C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.67C>G
  hgvsp: ENSP00000473150.1:p.Arg23Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.436C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.122C>G
  hgvsp: ENSP00000471657.1:p.Pro41Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.67C>G
  hgvsp: ENSP00000471421.1:p.Arg23Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.480C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.311C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.133C>G
  hgvsp: ENSP00000354598.4:p.Arg45Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.67C>G
  hgvsp: ENSP00000313818.7:p.Arg23Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.162C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.32C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.321C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.176C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.867C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.67C>G
  hgvsp: ENSP00000351644.6:p.Arg23Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.32C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.229C>G
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg23Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

19-17448835-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448835
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448835
    reference: chr 19
allele count: 1
allele frequency: 9.134922809902257e-6
allele num: 109470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.37C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.167C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.72C>T
  hgvsp: ENST00000358792.7:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.872C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.72C>T
  hgvsp: ENST00000324894.8:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*71C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.175C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.55C>T
  hgvsp: ENSP00000470109.1:p.Gln19Ter
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.72C>T
  hgvsp: ENST00000600625.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.72C>T
  hgvsp: ENST00000598493.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.37C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.181C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.127C>T
  hgvsp: ENSP00000471657.1:p.Gln43Ter
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.441C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.138C>T
  hgvsp: ENST00000361619.5:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.72C>T
  hgvsp: ENST00000594018.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.326C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.316C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.485C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.234C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln43Ter
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

19-17448839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448839
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448839
    reference: chr 19
allele count: 1
allele frequency: 9.140934934825134e-6
allele num: 109398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.445G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.238G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.142G>A
  hgvsp: ENSP00000354598.4:p.Gly48Ser
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.41G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.76G>A
  hgvsp: ENSP00000473150.1:p.Gly26Ser
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.489G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.131G>A
  hgvsp: ENSP00000471657.1:p.Arg44Gln
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.76G>A
  hgvsp: ENSP00000351644.6:p.Gly26Ser
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.76G>A
  hgvsp: ENSP00000471421.1:p.Gly26Ser
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.41G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.171G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.59G>A
  hgvsp: ENSP00000470109.1:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.876G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.76G>A
  hgvsp: ENSP00000472156.1:p.Gly26Ser
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.330G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.76G>A
  hgvsp: ENSP00000313818.7:p.Gly26Ser
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*75G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.179G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.185G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.320G>A
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly26Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

19-17448839-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448839
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448839
    reference: chr 19
allele count: 1
allele frequency: 9.140934934825134e-6
allele num: 109398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.76G>T
  hgvsp: ENSP00000472156.1:p.Gly26Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.171G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.76G>T
  hgvsp: ENSP00000473150.1:p.Gly26Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.76G>T
  hgvsp: ENSP00000313818.7:p.Gly26Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.445G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.59G>T
  hgvsp: ENSP00000470109.1:p.Arg20Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.131G>T
  hgvsp: ENSP00000471657.1:p.Arg44Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.76G>T
  hgvsp: ENSP00000351644.6:p.Gly26Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.489G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.76G>T
  hgvsp: ENSP00000471421.1:p.Gly26Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.142G>T
  hgvsp: ENSP00000354598.4:p.Gly48Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.41G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.238G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*75G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.185G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.320G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.41G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.876G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.179G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.330G>T
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly26Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

19-17448842-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448842
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448842
    reference: chr 19
allele count: 2
allele frequency: 1.82989313424096e-5
allele num: 109296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.79G>A
  hgvsp: ENSP00000472156.1:p.Ala27Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.174G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.323G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.448G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.62G>A
  hgvsp: ENSP00000470109.1:p.Arg21His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.79G>A
  hgvsp: ENSP00000471421.1:p.Ala27Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.79G>A
  hgvsp: ENSP00000351644.6:p.Ala27Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.79G>A
  hgvsp: ENSP00000473150.1:p.Ala27Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.44G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.44G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*78G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.492G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.182G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.134G>A
  hgvsp: ENSP00000471657.1:p.Arg45His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.241G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.879G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.79G>A
  hgvsp: ENSP00000313818.7:p.Ala27Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.145G>A
  hgvsp: ENSP00000354598.4:p.Ala49Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.188G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.333G>A
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala27Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-17448845-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448845
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448845
    reference: chr 19
allele count: 2
allele frequency: 1.831267053674437e-5
allele num: 109214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.882C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.137C>G
  hgvsp: ENSP00000471657.1:p.Thr46Ser
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.82C>G
  hgvsp: ENSP00000473150.1:p.Pro28Ala
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.82C>G
  hgvsp: ENSP00000472156.1:p.Pro28Ala
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.65C>G
  hgvsp: ENSP00000470109.1:p.Thr22Ser
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.82C>G
  hgvsp: ENSP00000351644.6:p.Pro28Ala
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.82C>G
  hgvsp: ENSP00000313818.7:p.Pro28Ala
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.451C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.185C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.148C>G
  hgvsp: ENSP00000354598.4:p.Pro50Ala
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*81C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.244C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.177C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.191C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.495C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.326C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.82C>G
  hgvsp: ENSP00000471421.1:p.Pro28Ala
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.47C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.336C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.47C>G
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro28Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

19-17448846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448846
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448846
    reference: chr 19
allele count: 2
allele frequency: 1.831267053674437e-5
allele num: 109214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*82C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.245C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.178C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.496C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.83C>T
  hgvsp: ENSP00000471421.1:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.83C>T
  hgvsp: ENSP00000473150.1:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.48C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.83C>T
  hgvsp: ENSP00000472156.1:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.48C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.149C>T
  hgvsp: ENSP00000354598.4:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.883C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.327C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.337C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.192C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.452C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.83C>T
  hgvsp: ENSP00000351644.6:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.138C>T
  hgvsp: ENST00000601213.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.83C>T
  hgvsp: ENSP00000313818.7:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.66C>T
  hgvsp: ENST00000602165.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.186C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro28Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

19-17448850-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448850
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448850
    reference: chr 19
allele count: 2
allele frequency: 1.831870889739691e-5
allele num: 109178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.142C>T
  hgvsp: ENSP00000471657.1:p.Pro48Ser
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.87C>T
  hgvsp: ENST00000594018.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.500C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.87C>T
  hgvsp: ENST00000598493.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.52C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.249C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*86C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.153C>T
  hgvsp: ENST00000361619.5:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.182C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.190C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.52C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.87C>T
  hgvsp: ENST00000358792.7:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.331C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.87C>T
  hgvsp: ENST00000600625.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.87C>T
  hgvsp: ENST00000324894.8:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.70C>T
  hgvsp: ENSP00000470109.1:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.196C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.456C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.341C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.887C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro48Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

19-17448854-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448854
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448854
    reference: chr 19
allele count: 4
allele frequency: 3.667705849990831e-5
allele num: 109060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.56G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*90G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.335G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.91G>T
  hgvsp: ENSP00000313818.7:p.Gly31Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.146G>T
  hgvsp: ENSP00000471657.1:p.Arg49Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.74G>T
  hgvsp: ENSP00000470109.1:p.Arg25Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.91G>T
  hgvsp: ENSP00000473150.1:p.Gly31Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.504G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.91G>T
  hgvsp: ENSP00000471421.1:p.Gly31Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.91G>T
  hgvsp: ENSP00000472156.1:p.Gly31Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.157G>T
  hgvsp: ENSP00000354598.4:p.Gly53Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.56G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.200G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.253G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.345G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.460G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.91G>T
  hgvsp: ENSP00000351644.6:p.Gly31Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.186G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.194G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.891G>T
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly31Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

19-17448856-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448856
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448856
    reference: chr 19
allele count: 31
allele frequency: 2.843775800385286e-4
allele num: 109010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.159C>T
  hgvsp: ENST00000361619.5:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.462C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.148C>T
  hgvsp: ENSP00000471657.1:p.Leu50Phe
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.196C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.893C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.255C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.93C>T
  hgvsp: ENST00000324894.8:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.93C>T
  hgvsp: ENST00000598493.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.93C>T
  hgvsp: ENST00000594018.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.188C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.506C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.93C>T
  hgvsp: ENST00000600625.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.76C>T
  hgvsp: ENSP00000470109.1:p.Leu26Phe
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.58C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.58C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.347C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.337C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*92C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.202C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.93C>T
  hgvsp: ENST00000358792.7:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu50Phe
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

19-17448860-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448860
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448860
    reference: chr 19
allele count: 25
allele frequency: 2.297498483651001e-4
allele num: 108814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.192G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*96G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.152G>A
  hgvsp: ENSP00000471657.1:p.Arg51Gln
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.200G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.206G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.80G>A
  hgvsp: ENSP00000470109.1:p.Arg27Gln
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.97G>A
  hgvsp: ENSP00000313818.7:p.Gly33Ser
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.62G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.466G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.62G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.97G>A
  hgvsp: ENSP00000472156.1:p.Gly33Ser
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.163G>A
  hgvsp: ENSP00000354598.4:p.Gly55Ser
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.341G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.351G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.510G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.259G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.897G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.97G>A
  hgvsp: ENSP00000471421.1:p.Gly33Ser
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.97G>A
  hgvsp: ENSP00000351644.6:p.Gly33Ser
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.97G>A
  hgvsp: ENSP00000473150.1:p.Gly33Ser
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly33Ser
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-17448864-C-CCACCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448864
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448869
    reference: chr 19
allele count: 1
allele frequency: 9.213872406294918e-6
allele num: 108532
alternate allele: CCACCA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.356_360dupCACCA
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.197_201dupCACCA
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.102_106dupCACCA
  hgvsp: ENSP00000472156.1:p.Ile36ThrfsTer6
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.85_89dupCACCA
  hgvsp: ENSP00000470109.1:p.Leu31ThrfsTer?
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.102_106dupCACCA
  hgvsp: ENSP00000471421.1:p.Ile36ThrfsTer6
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.515_519dupCACCA
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.346_350dupCACCA
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.67_71dupCACCA
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.102_106dupCACCA
  hgvsp: ENSP00000351644.6:p.Ile36ThrfsTer6
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.168_172dupCACCA
  hgvsp: ENSP00000354598.4:p.Ile58ThrfsTer6
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.102_106dupCACCA
  hgvsp: ENSP00000313818.7:p.Ile36ThrfsTer6
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*101_*105dupCACCA
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.157_161dupCACCA
  hgvsp: ENSP00000471657.1:p.Leu55ThrfsTer?
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.205_209dupCACCA
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.67_71dupCACCA
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.471_475dupCACCA
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.211_215dupCACCA
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.902_906dupCACCA
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.102_106dupCACCA
  hgvsp: ENSP00000473150.1:p.Ile36ThrfsTer6
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.264_268dupCACCA
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile36ThrfsTer6
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-17448874-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448874
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448874
    reference: chr 19
allele count: 1
allele frequency: 9.287638153617536e-6
allele num: 107670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.177C>T
  hgvsp: ENST00000361619.5:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.76C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.524C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.166C>T
  hgvsp: ENSP00000471657.1:p.Arg56Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.273C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.111C>T
  hgvsp: ENST00000358792.7:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.911C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.111C>T
  hgvsp: ENST00000598493.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.355C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.365C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*110C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.111C>T
  hgvsp: ENST00000594018.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.214C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.111C>T
  hgvsp: ENST00000600625.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.94C>T
  hgvsp: ENSP00000470109.1:p.Arg32Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.206C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.111C>T
  hgvsp: ENST00000324894.8:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.480C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.220C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.76C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg56Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS

19-17448876-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448876
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448876
    reference: chr 19
allele count: 1
allele frequency: 9.312721177127956e-6
allele num: 107380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.208C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.78C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.113C>T
  hgvsp: ENSP00000351644.6:p.Ala38Val
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*112C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.526C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.78C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.113C>T
  hgvsp: ENSP00000471421.1:p.Ala38Val
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.113C>T
  hgvsp: ENSP00000473150.1:p.Ala38Val
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.275C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.113C>T
  hgvsp: ENSP00000313818.7:p.Ala38Val
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.179C>T
  hgvsp: ENSP00000354598.4:p.Ala60Val
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.357C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.113C>T
  hgvsp: ENSP00000472156.1:p.Ala38Val
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.96C>T
  hgvsp: ENST00000602165.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.913C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.367C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.222C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.216C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.168C>T
  hgvsp: ENST00000601213.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.482C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala38Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

19-17448877-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448877
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448877
    reference: chr 19
allele count: 2
allele frequency: 1.868425477849816e-5
allele num: 107042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.223G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.79G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.114G>C
  hgvsp: ENST00000600625.1:c.114G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.914G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.180G>C
  hgvsp: ENST00000361619.5:c.180G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.358G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.276G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*113G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.114G>C
  hgvsp: ENST00000358792.7:c.114G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.114G>C
  hgvsp: ENST00000324894.8:c.114G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.97G>C
  hgvsp: ENSP00000470109.1:p.Ala33Pro
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.527G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.114G>C
  hgvsp: ENST00000598493.1:c.114G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.169G>C
  hgvsp: ENSP00000471657.1:p.Ala57Pro
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.114G>C
  hgvsp: ENST00000594018.1:c.114G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.79G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.483G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.217G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.209G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.368G>C
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala57Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

19-17448878-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448878
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448878
    reference: chr 19
allele count: 2
allele frequency: 1.867692652497105e-5
allele num: 107084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.181C>T
  hgvsp: ENST00000361619.5:c.181C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.98C>T
  hgvsp: ENSP00000470109.1:p.Ala33Val
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.369C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.210C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.80C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.115C>T
  hgvsp: ENST00000600625.1:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.528C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.915C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.115C>T
  hgvsp: ENST00000358792.7:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.115C>T
  hgvsp: ENST00000324894.8:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.115C>T
  hgvsp: ENST00000598493.1:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.218C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.170C>T
  hgvsp: ENSP00000471657.1:p.Ala57Val
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.224C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*114C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.277C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.484C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.359C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.115C>T
  hgvsp: ENST00000594018.1:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.80C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala57Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

19-17448883-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448883
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448883
    reference: chr 19
allele count: 1
allele frequency: 9.400970180122589e-6
allele num: 106372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.175C>T
  hgvsp: ENSP00000471657.1:p.Leu59Phe
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.120C>T
  hgvsp: ENST00000598493.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.489C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.920C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.215C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.223C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.186C>T
  hgvsp: ENST00000361619.5:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.120C>T
  hgvsp: ENST00000600625.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.364C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.282C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.85C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.85C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.374C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.120C>T
  hgvsp: ENST00000324894.8:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.103C>T
  hgvsp: ENSP00000470109.1:p.Leu35Phe
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.229C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.120C>T
  hgvsp: ENST00000358792.7:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.120C>T
  hgvsp: ENST00000594018.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.533C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*119C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu59Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

19-17448884-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448884
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448884
    reference: chr 19
allele count: 2
allele frequency: 1.884055240499651e-5
allele num: 106154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*120T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.187T>A
  hgvsp: ENSP00000354598.4:p.Ser63Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.121T>A
  hgvsp: ENSP00000472156.1:p.Ser41Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.534T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.86T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.121T>A
  hgvsp: ENSP00000473150.1:p.Ser41Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.104T>A
  hgvsp: ENSP00000470109.1:p.Leu35His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.230T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.365T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.121T>A
  hgvsp: ENSP00000351644.6:p.Ser41Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.121T>A
  hgvsp: ENSP00000313818.7:p.Ser41Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.921T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.86T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.176T>A
  hgvsp: ENSP00000471657.1:p.Leu59His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.375T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.121T>A
  hgvsp: ENSP00000471421.1:p.Ser41Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.216T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.490T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.283T>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.224T>A
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser41Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

19-17448885-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448885
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448885
    reference: chr 19
allele count: 1
allele frequency: 9.450188058742369e-6
allele num: 105818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.217C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.177C>G
  hgvsp: ENST00000601213.1:c.177C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.225C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.87C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.188C>G
  hgvsp: ENSP00000354598.4:p.Ser63Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.284C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.491C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.122C>G
  hgvsp: ENSP00000472156.1:p.Ser41Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.231C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*121C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.122C>G
  hgvsp: ENSP00000313818.7:p.Ser41Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.122C>G
  hgvsp: ENSP00000471421.1:p.Ser41Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.122C>G
  hgvsp: ENSP00000351644.6:p.Ser41Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.122C>G
  hgvsp: ENSP00000473150.1:p.Ser41Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.105C>G
  hgvsp: ENST00000602165.1:c.105C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.535C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.376C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.87C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.366C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.922C>G
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser41Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

19-17448891-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448891
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448891
    reference: chr 19
allele count: 1
allele frequency: 9.538526106945954e-6
allele num: 104838
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.128A>T
  hgvsp: ENSP00000351644.6:p.Gln43Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.928A>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.128A>T
  hgvsp: ENSP00000472156.1:p.Gln43Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.93A>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.237A>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.93A>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.194A>T
  hgvsp: ENSP00000354598.4:p.Gln65Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.111A>T
  hgvsp: ENST00000602165.1:c.111A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.183A>T
  hgvsp: ENST00000601213.1:c.183A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.372A>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.541A>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.128A>T
  hgvsp: ENSP00000313818.7:p.Gln43Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.128A>T
  hgvsp: ENSP00000473150.1:p.Gln43Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.290A>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.128A>T
  hgvsp: ENSP00000471421.1:p.Gln43Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.497A>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.223A>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.382A>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*127A>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.231A>T
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln43Leu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

19-17448896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448896
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448896
    reference: chr 19
allele count: 2
allele frequency: 1.925891687851475e-5
allele num: 103848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.377C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.236C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.387C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.116C>T
  hgvsp: ENSP00000470109.1:p.Pro39Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.133C>T
  hgvsp: ENSP00000471421.1:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.188C>T
  hgvsp: ENSP00000471657.1:p.Pro63Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.133C>T
  hgvsp: ENSP00000351644.6:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.133C>T
  hgvsp: ENSP00000313818.7:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.295C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.133C>T
  hgvsp: ENSP00000472156.1:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.546C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.228C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.199C>T
  hgvsp: ENSP00000354598.4:p.Arg67Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.242C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.98C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.933C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.98C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*132C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.502C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.133C>T
  hgvsp: ENSP00000473150.1:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg45Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

19-17448897-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448897
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448897
    reference: chr 19
allele count: 1
allele frequency: 9.666692444513185e-6
allele num: 103448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.547G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.117G>A
  hgvsp: ENST00000602165.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.134G>A
  hgvsp: ENSP00000471421.1:p.Arg45His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.134G>A
  hgvsp: ENSP00000473150.1:p.Arg45His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.134G>A
  hgvsp: ENSP00000351644.6:p.Arg45His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.378G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.934G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.503G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.134G>A
  hgvsp: ENSP00000472156.1:p.Arg45His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.200G>A
  hgvsp: ENSP00000354598.4:p.Arg67His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.189G>A
  hgvsp: ENST00000601213.1:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.134G>A
  hgvsp: ENSP00000313818.7:p.Arg45His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*133G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.296G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.388G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.237G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.99G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.243G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.99G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.229G>A
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg45His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

19-17448899-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448899
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448899
    reference: chr 19
allele count: 9
allele frequency: 8.726849607291768e-5
allele num: 103130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.136T>G
  hgvsp: ENSP00000473150.1:p.Cys46Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.245T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.191T>G
  hgvsp: ENSP00000471657.1:p.Leu64Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.298T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.119T>G
  hgvsp: ENSP00000470109.1:p.Leu40Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.136T>G
  hgvsp: ENSP00000351644.6:p.Cys46Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.936T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.101T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.136T>G
  hgvsp: ENSP00000471421.1:p.Cys46Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*135T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.231T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.136T>G
  hgvsp: ENSP00000313818.7:p.Cys46Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.202T>G
  hgvsp: ENSP00000354598.4:p.Cys68Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.101T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.136T>G
  hgvsp: ENSP00000472156.1:p.Cys46Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.390T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.549T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.505T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.239T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.380T>G
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys46Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

19-17448901-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448901
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448901
    reference: chr 19
allele count: 5
allele frequency: 4.87681173555976e-5
allele num: 102526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.138C>T
  hgvsp: ENST00000594018.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.204C>T
  hgvsp: ENST00000361619.5:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.193C>T
  hgvsp: ENSP00000471657.1:p.Arg65Trp
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.103C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.138C>T
  hgvsp: ENST00000358792.7:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.121C>T
  hgvsp: ENSP00000470109.1:p.Arg41Trp
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.138C>T
  hgvsp: ENST00000324894.8:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.382C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.392C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.138C>T
  hgvsp: ENST00000598493.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.103C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.233C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.507C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.241C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.551C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.247C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.300C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.138C>T
  hgvsp: ENST00000600625.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*137C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.938C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg65Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-17448913-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448913
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448913
    reference: chr 19
allele count: 90
allele frequency: 9.080452811913554e-4
allele num: 99114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*149G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.205G>T
  hgvsp: ENSP00000471657.1:p.Asp69Tyr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.950G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.115G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.519G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.150G>T
  hgvsp: ENST00000358792.7:c.150G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.115G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.253G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.394G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.150G>T
  hgvsp: ENST00000324894.8:c.150G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.216G>T
  hgvsp: ENST00000361619.5:c.216G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.150G>T
  hgvsp: ENST00000594018.1:c.150G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.245G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.133G>T
  hgvsp: ENSP00000470109.1:p.Asp45Tyr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.150G>T
  hgvsp: ENST00000600625.1:c.150G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.404G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.563G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.150G>T
  hgvsp: ENST00000598493.1:c.150G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.312G>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.259G>T
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp69Tyr
num of homozygotes: 1
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-17448918-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448918
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448918
    reference: chr 19
allele count: 3
allele frequency: 3.191896837894199e-5
allele num: 93988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.155G>A
  hgvsp: ENSP00000313818.7:p.Arg52Gln
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.317G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.138G>A
  hgvsp: ENST00000602165.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.120G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.155G>A
  hgvsp: ENSP00000473150.1:p.Arg52Gln
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.258G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.250G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.264G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.221G>A
  hgvsp: ENSP00000354598.4:p.Arg74Gln
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.155G>A
  hgvsp: ENSP00000351644.6:p.Arg52Gln
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.409G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.155G>A
  hgvsp: ENSP00000471421.1:p.Arg52Gln
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.568G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.210G>A
  hgvsp: ENST00000601213.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.120G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.399G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.155G>A
  hgvsp: ENSP00000472156.1:p.Arg52Gln
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*154G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.524G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.955G>A
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg52Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

19-17448919-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448919
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448919
    reference: chr 19
allele count: 1
allele frequency: 1.072133116047689e-5
allele num: 93272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.400G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.318G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.956G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.121G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.259G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.139G>A
  hgvsp: ENSP00000470109.1:p.Asp47Asn
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.211G>A
  hgvsp: ENSP00000471657.1:p.Asp71Asn
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.156G>A
  hgvsp: ENST00000358792.7:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.156G>A
  hgvsp: ENST00000600625.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.156G>A
  hgvsp: ENST00000594018.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.251G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.156G>A
  hgvsp: ENST00000324894.8:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.525G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.121G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.222G>A
  hgvsp: ENST00000361619.5:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.410G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.569G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.265G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*155G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.156G>A
  hgvsp: ENST00000598493.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp71Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

19-17448920-ACCAGCGGCCCCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448920
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448908
    reference: chr 19
allele count: 2
allele frequency: 2.188566926376608e-5
allele num: 91384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsp: ENSP00000470109.1:p.Gln52_Arg55del
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsp: ENSP00000354598.4:p.Pro78_Gly81del
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsp: ENSP00000473150.1:p.Pro56_Gly59del
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsp: ENSP00000472156.1:p.Pro56_Gly59del
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsp: ENSP00000351644.6:p.Pro56_Gly59del
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsp: ENSP00000471657.1:p.Gln76_Arg79del
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsp: ENSP00000313818.7:p.Pro56_Gly59del
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsp: ENSP00000471421.1:p.Pro56_Gly59del
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12917
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro56_Gly59del
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: ACCAGCGGCCCCG
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

19-17448930-C-CCGCCAGCGGCCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448930
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448942
    reference: chr 19
allele count: 1
allele frequency: 1.017231908530507e-5
allele num: 98306
alternate allele: CCGCCAGCGGCCA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsp: ENSP00000313818.7:p.Ser58_Ala61dup
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsp: ENSP00000472156.1:p.Ser58_Ala61dup
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsp: ENSP00000473150.1:p.Ser58_Ala61dup
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsp: ENSP00000471421.1:p.Ser58_Ala61dup
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsp: ENSP00000354598.4:p.Ser80_Ala83dup
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsp: ENSP00000471657.1:p.Gln76_Arg79dup
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsp: ENSP00000470109.1:p.Gln52_Arg55dup
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsp: ENSP00000351644.6:p.Ser58_Ala61dup
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7739
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser58_Ala61dup
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

19-17448932-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448932
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448932
    reference: chr 19
allele count: 3
allele frequency: 3.053932447014272e-5
allele num: 98234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.169G>C
  hgvsp: ENSP00000313818.7:p.Ala57Pro
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.235G>C
  hgvsp: ENSP00000354598.4:p.Ala79Pro
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.331G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.134G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.264G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.169G>C
  hgvsp: ENSP00000471421.1:p.Ala57Pro
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.969G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.169G>C
  hgvsp: ENSP00000351644.6:p.Ala57Pro
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.152G>C
  hgvsp: ENSP00000470109.1:p.Arg51Pro
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.169G>C
  hgvsp: ENSP00000472156.1:p.Ala57Pro
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.272G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.224G>C
  hgvsp: ENSP00000471657.1:p.Arg75Pro
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*168G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.423G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.169G>C
  hgvsp: ENSP00000473150.1:p.Ala57Pro
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.278G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.582G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.538G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.134G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.413G>C
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala57Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/19-17448934-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448934
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448934
    reference: chr 19
allele count: 1
allele frequency: 1.01432222988599e-5
allele num: 98588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.266C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.154C>A
  hgvsp: ENSP00000470109.1:p.Gln52Lys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.333C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.171C>A
  hgvsp: ENST00000358792.7:c.171C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.226C>A
  hgvsp: ENSP00000471657.1:p.Gln76Lys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.280C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.136C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.171C>A
  hgvsp: ENST00000598493.1:c.171C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.415C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*170C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.171C>A
  hgvsp: ENST00000324894.8:c.171C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.171C>A
  hgvsp: ENST00000600625.1:c.171C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.584C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.237C>A
  hgvsp: ENST00000361619.5:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.136C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.540C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.171C>A
  hgvsp: ENST00000594018.1:c.171C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.971C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.274C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.425C>A
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln76Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

19-17448941-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448941
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448941
    reference: chr 19
allele count: 7
allele frequency: 7.068993375343352e-5
allele num: 99024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.591C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.978C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.178C>T
  hgvsp: ENSP00000473150.1:p.His60Tyr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.178C>T
  hgvsp: ENSP00000351644.6:p.His60Tyr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.273C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.143C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.432C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.281C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.287C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.178C>T
  hgvsp: ENSP00000472156.1:p.His60Tyr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.178C>T
  hgvsp: ENSP00000313818.7:p.His60Tyr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.244C>T
  hgvsp: ENSP00000354598.4:p.His82Tyr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.161C>T
  hgvsp: ENSP00000470109.1:p.Pro54Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.178C>T
  hgvsp: ENSP00000471421.1:p.His60Tyr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.143C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.340C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*177C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.233C>T
  hgvsp: ENSP00000471657.1:p.Pro78Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.547C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.422C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His60Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-17448943-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448943
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448943
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 98802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.180C>T
  hgvsp: ENST00000600625.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.549C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.180C>T
  hgvsp: ENST00000324894.8:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.235C>T
  hgvsp: ENSP00000471657.1:p.Arg79Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.424C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*179C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.180C>T
  hgvsp: ENST00000598493.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.163C>T
  hgvsp: ENSP00000470109.1:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.289C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.145C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.145C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.434C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.180C>T
  hgvsp: ENST00000594018.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.246C>T
  hgvsp: ENST00000361619.5:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.342C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.275C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.980C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.180C>T
  hgvsp: ENST00000358792.7:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.283C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.593C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg79Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

19-17448960-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448960
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448960
    reference: chr 19
allele count: 1
allele frequency: 1.015744032503809e-5
allele num: 98450
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.359C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*196C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.451C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.197C>T
  hgvsp: ENSP00000313818.7:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.441C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.306C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.197C>T
  hgvsp: ENSP00000473150.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.180C>T
  hgvsp: ENST00000602165.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.197C>T
  hgvsp: ENSP00000351644.6:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.997C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.263C>T
  hgvsp: ENSP00000354598.4:p.Thr88Ile
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.610C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.252C>T
  hgvsp: ENST00000601213.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.292C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.197C>T
  hgvsp: ENSP00000471421.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.197C>T
  hgvsp: ENSP00000472156.1:p.Thr66Ile
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.162C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.300C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.162C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.566C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr66Ile
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/19-17448961-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448961
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448961
    reference: chr 19
allele count: 67512
allele frequency: 6.631436261124098e-1
allele num: 101806
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.307A>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.198A>C
  hgvsp: ENST00000358792.7:c.198A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.998A>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.567A>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.360A>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.253A>C
  hgvsp: ENSP00000471657.1:p.Ser85Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*197A>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.181A>C
  hgvsp: ENSP00000470109.1:p.Ser61Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.293A>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.198A>C
  hgvsp: ENST00000598493.1:c.198A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.198A>C
  hgvsp: ENST00000600625.1:c.198A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.264A>C
  hgvsp: ENST00000361619.5:c.264A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.163A>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.198A>C
  hgvsp: ENST00000594018.1:c.198A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.198A>C
  hgvsp: ENST00000324894.8:c.198A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.611A>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.442A>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.163A>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.301A>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.452A>C
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser85Arg
num of homozygotes: 22955
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP

19-17448964-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448964
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448964
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 84826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.296A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.1001A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.363A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.201A>G
  hgvsp: ENST00000598493.1:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.256A>G
  hgvsp: ENSP00000471657.1:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.267A>G
  hgvsp: ENST00000361619.5:c.267A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.570A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.184A>G
  hgvsp: ENSP00000470109.1:p.Thr62Ala
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.304A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.201A>G
  hgvsp: ENST00000600625.1:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.310A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.445A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.201A>G
  hgvsp: ENST00000358792.7:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.201A>G
  hgvsp: ENST00000594018.1:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.201A>G
  hgvsp: ENST00000324894.8:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.166A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.614A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.455A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.166A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*200A>G
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr86Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-17448966-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448966
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448966
    reference: chr 19
allele count: 3
allele frequency: 3.501155381275821e-5
allele num: 85686
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.203C>G
  hgvsp: ENSP00000351644.6:p.Pro68Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.1003C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.365C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.203C>G
  hgvsp: ENSP00000473150.1:p.Pro68Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.203C>G
  hgvsp: ENSP00000471421.1:p.Pro68Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.447C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.168C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.168C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.312C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.616C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*202C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.269C>G
  hgvsp: ENSP00000354598.4:p.Pro90Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.186C>G
  hgvsp: ENST00000602165.1:c.186C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.203C>G
  hgvsp: ENSP00000313818.7:p.Pro68Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.298C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.306C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.572C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.258C>G
  hgvsp: ENST00000601213.1:c.258C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.457C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.203C>G
  hgvsp: ENSP00000472156.1:p.Pro68Arg
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro68Arg
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

19-17448966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448966
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448966
    reference: chr 19
allele count: 1
allele frequency: 1.167051793758607e-5
allele num: 85686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.1003C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.203C>T
  hgvsp: ENSP00000313818.7:p.Pro68Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.203C>T
  hgvsp: ENSP00000472156.1:p.Pro68Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.572C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*202C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.203C>T
  hgvsp: ENSP00000351644.6:p.Pro68Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.168C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.168C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.258C>T
  hgvsp: ENST00000601213.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.203C>T
  hgvsp: ENSP00000471421.1:p.Pro68Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.306C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.186C>T
  hgvsp: ENST00000602165.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.312C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.203C>T
  hgvsp: ENSP00000473150.1:p.Pro68Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.269C>T
  hgvsp: ENSP00000354598.4:p.Pro90Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.616C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.447C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.365C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.298C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.457C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro68Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

19-17448967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448967
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448967
    reference: chr 19
allele count: 1
allele frequency: 1.180080245456691e-5
allele num: 84740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.204C>T
  hgvsp: ENST00000324894.8:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.299C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.307C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.204C>T
  hgvsp: ENST00000594018.1:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.187C>T
  hgvsp: ENSP00000470109.1:p.Pro63Ser
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.458C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.1004C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.204C>T
  hgvsp: ENST00000600625.1:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.204C>T
  hgvsp: ENST00000598493.1:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*203C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.313C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.270C>T
  hgvsp: ENST00000361619.5:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.617C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.259C>T
  hgvsp: ENSP00000471657.1:p.Pro87Ser
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.204C>T
  hgvsp: ENST00000358792.7:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.169C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.366C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.169C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.573C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.448C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro87Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

19-17448968-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448968
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448968
    reference: chr 19
allele count: 2
allele frequency: 2.370848052348325e-5
allele num: 84358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.449C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*204C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.188C>G
  hgvsp: ENSP00000470109.1:p.Pro63Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.170C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.205C>G
  hgvsp: ENSP00000313818.7:p.Arg69Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.260C>G
  hgvsp: ENSP00000471657.1:p.Pro87Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.271C>G
  hgvsp: ENSP00000354598.4:p.Arg91Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.170C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.205C>G
  hgvsp: ENSP00000471421.1:p.Arg69Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.459C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.205C>G
  hgvsp: ENSP00000473150.1:p.Arg69Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.205C>G
  hgvsp: ENSP00000472156.1:p.Arg69Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.300C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.367C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.574C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.205C>G
  hgvsp: ENSP00000351644.6:p.Arg69Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.314C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.618C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.1005C>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.308C>G
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg69Gly
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

19-17448974-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448974
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448974
    reference: chr 19
allele count: 2
allele frequency: 2.452603438550021e-5
allele num: 81546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.211C>T
  hgvsp: ENST00000324894.8:c.211C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.211C>T
  hgvsp: ENST00000598493.1:c.211C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.314C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.211C>T
  hgvsp: ENST00000600625.1:c.211C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.455C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.373C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.580C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.211C>T
  hgvsp: ENST00000594018.1:c.211C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.266C>T
  hgvsp: ENSP00000471657.1:p.Pro89Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.211C>T
  hgvsp: ENST00000358792.7:c.211C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.277C>T
  hgvsp: ENST00000361619.5:c.277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.194C>T
  hgvsp: ENSP00000470109.1:p.Pro65Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.320C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*210C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.306C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.624C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.465C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.176C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.176C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.1011C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro89Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/19-17448977-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448977
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448977
    reference: chr 19
allele count: 2
allele frequency: 2.475308794772148e-5
allele num: 80798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.309C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.458C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.197C>A
  hgvsp: ENSP00000470109.1:p.Ala66Asp
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.376C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.280C>A
  hgvsp: ENSP00000354598.4:p.Pro94Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.214C>A
  hgvsp: ENSP00000472156.1:p.Pro72Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*213C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.214C>A
  hgvsp: ENSP00000471421.1:p.Pro72Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.179C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.214C>A
  hgvsp: ENSP00000313818.7:p.Pro72Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.323C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.269C>A
  hgvsp: ENSP00000471657.1:p.Ala90Asp
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.179C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.1014C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.214C>A
  hgvsp: ENSP00000351644.6:p.Pro72Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.317C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.583C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.468C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.627C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.214C>A
  hgvsp: ENSP00000473150.1:p.Pro72Thr
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro72Thr
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-17448978-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448978
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448978
    reference: chr 19
allele count: 4
allele frequency: 5.003377279663773e-5
allele num: 79946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.215C>A
  hgvsp: ENSP00000313818.7:p.Pro72His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.270C>A
  hgvsp: ENST00000601213.1:c.270C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.281C>A
  hgvsp: ENSP00000354598.4:p.Pro94His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.215C>A
  hgvsp: ENSP00000471421.1:p.Pro72His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.469C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.215C>A
  hgvsp: ENSP00000472156.1:p.Pro72His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*214C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.377C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.198C>A
  hgvsp: ENST00000602165.1:c.198C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.628C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.324C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.318C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.215C>A
  hgvsp: ENSP00000351644.6:p.Pro72His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.1015C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.215C>A
  hgvsp: ENSP00000473150.1:p.Pro72His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.180C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.310C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.584C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.459C>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.180C>A
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro72His
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

19-17448978-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448978
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448978
    reference: chr 19
allele count: 1
allele frequency: 1.250844319915943e-5
allele num: 79946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*214C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.215C>T
  hgvsp: ENSP00000471421.1:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.215C>T
  hgvsp: ENSP00000313818.7:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.1015C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.281C>T
  hgvsp: ENSP00000354598.4:p.Pro94Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.198C>T
  hgvsp: ENST00000602165.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.180C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.318C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.215C>T
  hgvsp: ENSP00000473150.1:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.377C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.584C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.215C>T
  hgvsp: ENSP00000472156.1:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.469C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.628C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.324C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.310C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.270C>T
  hgvsp: ENST00000601213.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.180C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.215C>T
  hgvsp: ENSP00000351644.6:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.459C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro72Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-17448982-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448982
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448982
    reference: chr 19
allele count: 1
allele frequency: 1.270518879910556e-5
allele num: 78708
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.219T>G
  hgvsp: ENST00000358792.7:c.219T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.314T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.219T>G
  hgvsp: ENST00000594018.1:c.219T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.184T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.219T>G
  hgvsp: ENST00000598493.1:c.219T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.632T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.202T>G
  hgvsp: ENSP00000470109.1:p.Cys68Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.274T>G
  hgvsp: ENSP00000471657.1:p.Cys92Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*218T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.328T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.1019T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.219T>G
  hgvsp: ENST00000324894.8:c.219T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.285T>G
  hgvsp: ENST00000361619.5:c.285T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.219T>G
  hgvsp: ENST00000600625.1:c.219T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.463T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.184T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.322T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.381T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.588T>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.473T>G
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys92Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

19-17448992-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448992
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448992
    reference: chr 19
allele count: 1
allele frequency: 1.385041551246537e-5
allele num: 72200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.332G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.194G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.483G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.229G>A
  hgvsp: ENSP00000473150.1:p.Ala77Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.194G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.229G>A
  hgvsp: ENSP00000313818.7:p.Ala77Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.229G>A
  hgvsp: ENSP00000471421.1:p.Ala77Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.212G>A
  hgvsp: ENSP00000470109.1:p.Arg71His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.229G>A
  hgvsp: ENSP00000472156.1:p.Ala77Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*228G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.284G>A
  hgvsp: ENSP00000471657.1:p.Arg95His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.473G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.598G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.295G>A
  hgvsp: ENSP00000354598.4:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.338G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.391G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.1029G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.229G>A
  hgvsp: ENSP00000351644.6:p.Ala77Thr
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.642G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.324G>A
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala77Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

19-17448995-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17448995
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17448995
    reference: chr 19
allele count: 2
allele frequency: 2.742506102076077e-5
allele num: 72926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.232A>G
  hgvsp: ENSP00000313818.7:p.Ser78Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.215A>G
  hgvsp: ENSP00000470109.1:p.Gln72Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.232A>G
  hgvsp: ENSP00000473150.1:p.Ser78Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.298A>G
  hgvsp: ENSP00000354598.4:p.Ser100Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.197A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.232A>G
  hgvsp: ENSP00000471421.1:p.Ser78Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.341A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.394A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.197A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.232A>G
  hgvsp: ENSP00000472156.1:p.Ser78Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.232A>G
  hgvsp: ENSP00000351644.6:p.Ser78Gly
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.287A>G
  hgvsp: ENSP00000471657.1:p.Gln96Arg
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.486A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.327A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*231A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.1032A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.476A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.645A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.335A>G
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.601A>G
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser78Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

19-17449009-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17449009
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17449009
    reference: chr 19
allele count: 1
allele frequency: 1.506024096385542e-5
allele num: 66400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.246C>T
  hgvsp: ENST00000600625.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.615C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.246C>T
  hgvsp: ENST00000358792.7:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.500C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.211C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.341C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.301C>T
  hgvsp: ENSP00000471657.1:p.Gln101Ter
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.246C>T
  hgvsp: ENST00000594018.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.349C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.355C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.211C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.229C>T
  hgvsp: ENSP00000470109.1:p.Gln77Ter
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601983
  gene symbol: GTPBP3
  hgvsc: ENST00000601983.1:n.5C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.246C>T
  hgvsp: ENST00000324894.8:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.246C>T
  hgvsp: ENST00000598493.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.408C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.659C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.490C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*245C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.1046C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: false
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln101Ter
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-17449011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17449011
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17449011
    reference: chr 19
allele count: 3
allele frequency: 4.564403736725192e-5
allele num: 65726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.357G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.248G>A
  hgvsp: ENSP00000471421.1:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.343G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.248G>A
  hgvsp: ENSP00000351644.6:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.314G>A
  hgvsp: ENSP00000354598.4:p.Ser105Asn
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.248G>A
  hgvsp: ENSP00000473150.1:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.248G>A
  hgvsp: ENSP00000472156.1:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601983
  gene symbol: GTPBP3
  hgvsc: ENST00000601983.1:n.7G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*247G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.248G>A
  hgvsp: ENSP00000313818.7:p.Ser83Asn
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.231G>A
  hgvsp: ENST00000602165.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.213G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.661G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.410G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.1048G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.502G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.617G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.351G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.492G>A
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.213G>A
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser83Asn
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

19-17449013-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17449013
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17449013
    reference: chr 19
allele count: 2
allele frequency: 3.065791894046232e-5
allele num: 65236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.250G>C
  hgvsp: ENSP00000473150.1:p.Asp84His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.250G>C
  hgvsp: ENSP00000472156.1:p.Asp84His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.233G>C
  hgvsp: ENSP00000470109.1:p.Arg78Pro
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.353G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.215G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*249G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.250G>C
  hgvsp: ENSP00000471421.1:p.Asp84His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.359G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.345G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.250G>C
  hgvsp: ENSP00000351644.6:p.Asp84His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.619G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.316G>C
  hgvsp: ENSP00000354598.4:p.Asp106His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.250G>C
  hgvsp: ENSP00000313818.7:p.Asp84His
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.1050G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.504G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.215G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.494G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.663G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601983
  gene symbol: GTPBP3
  hgvsc: ENST00000601983.1:n.9G>C
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.412G>C
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp84His
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

19-17449019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17449019
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17449019
    reference: chr 19
allele count: 33
allele frequency: 5.213434863660779e-4
allele num: 63298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596001
  gene symbol: GTPBP3
  hgvsc: ENST00000596001.1:n.625C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000473150
  ensembl transcript: ENST00000600625
  gene symbol: GTPBP3
  hgvsc: ENST00000600625.1:c.256C>T
  hgvsp: ENSP00000473150.1:p.Arg86Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596218
  gene symbol: GTPBP3
  hgvsc: ENST00000596218.1:n.500C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000598038
  gene symbol: GTPBP3
  hgvsc: ENST00000598038.1:n.1056C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*255C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000472156
  ensembl transcript: ENST00000598493
  gene symbol: GTPBP3
  hgvsc: ENST00000598493.1:c.256C>T
  hgvsp: ENSP00000472156.1:p.Arg86Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601983
  gene symbol: GTPBP3
  hgvsc: ENST00000601983.1:n.15C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.239C>T
  hgvsp: ENSP00000470109.1:p.Pro80Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000351644
  ensembl transcript: ENST00000358792
  gene symbol: GTPBP3
  hgvsc: ENST00000358792.7:c.256C>T
  hgvsp: ENSP00000351644.6:p.Arg86Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471657
  ensembl transcript: ENST00000601213
  gene symbol: GTPBP3
  hgvsc: ENST00000601213.1:c.311C>T
  hgvsp: ENSP00000471657.1:p.Pro104Leu
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.322C>T
  hgvsp: ENSP00000354598.4:p.Arg108Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.256C>T
  hgvsp: ENSP00000471421.1:p.Arg86Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596941
  gene symbol: GTPBP3
  hgvsc: ENST00000596941.1:n.365C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.418C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.359C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000594345
  gene symbol: GTPBP3
  hgvsc: ENST00000594345.1:n.669C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000600995
  gene symbol: GTPBP3
  hgvsc: ENST00000600995.1:n.510C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.221C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.256C>T
  hgvsp: ENSP00000313818.7:p.Arg86Cys
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000593297
  gene symbol: GTPBP3
  hgvsc: ENST00000593297.1:n.221C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg86Cys
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

19-17449023-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17449023
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17449023
    reference: chr 19
allele count: 8
allele frequency: 1.274250581376828e-4
allele num: 62782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601983
  gene symbol: GTPBP3
  hgvsc: ENST00000601983.1:n.19C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000313818
  ensembl transcript: ENST00000324894
  gene symbol: GTPBP3
  hgvsc: ENST00000324894.8:c.260C>T
  hgvsp: ENSP00000313818.7:p.Ser87Phe
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000601261
  gene symbol: GTPBP3
  hgvsc: ENST00000601261.1:n.225C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000471421
  ensembl transcript: ENST00000594018
  gene symbol: GTPBP3
  hgvsc: ENST00000594018.1:c.260C>T
  hgvsp: ENSP00000471421.1:p.Ser87Phe
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599329
  gene symbol: GTPBP3
  hgvsc: ENST00000599329.1:n.363C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000470109
  ensembl transcript: ENST00000602165
  gene symbol: GTPBP3
  hgvsc: ENST00000602165.1:c.243C>T
  hgvsp: ENST00000602165.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000599429
  gene symbol: GTPBP3
  hgvsc: ENST00000599429.1:n.355C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000469008
  ensembl transcript: ENST00000600610
  gene symbol: GTPBP3
  hgvsc: ENST00000600610.1:c.*259C>T
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130299
  ensembl protein: ENSP00000354598
  ensembl transcript: ENST00000361619
  gene symbol: GTPBP3
  hgvsc: ENST00000361619.5:c.326C>T
  hgvsp: ENSP00000354598.4:p.Ser109Phe
  variant of: http://identifiers.org/hgnc/14880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130299
  ensembl transcript: ENST00000596166
  gene symbol: GTPBP3
  hgvsc: ENST00000596166.1:n.422C>T
  variant of: http://identifiers.org/hgnc/14880
canonical: true
consequence: missense
filter: PASS
hgvs: p.Ser87Phe
num of homozygotes: 0
reference allele: C

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

GenotypeDepth
all individuals: 683
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 4.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 42483
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2171
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2230
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 217
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 3.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1653
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9608
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 339
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2082
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48830
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3028
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.293326435592343e-4
allele num: 7732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15880
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.796e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.273e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.006e0

QD
type: SiteQuality
SIO_000300: 1.339e1

MQ
type: SiteQuality
SIO_000300: 5.863e1

DP
type: SiteQuality
SIO_000300: 1.263287e6

Annotation
canonical: true
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000130299
ensembl protein: ENSP00000351644
ensembl transcript: ENST00000358792
gene symbol: GTPBP3
hgvsc: ENST00000358792.7:c.54-8G>A
variant of: http://identifiers.org/hgnc/14880

GenotypeDepth
all individuals: 2239
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1646
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 693
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9642
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 221
bin: 1.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 42481
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 2142
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 176
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2090
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48860
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3034
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59616
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.991188635137565e-5
allele num: 11122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7736
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

DP
type: SiteQuality
SIO_000300: 1.264222e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.364e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000130299
ensembl transcript: ENST00000601261
gene symbol: GTPBP3
hgvsc: ENST00000601261.1:n.19-6T>C
variant of: http://identifiers.org/hgnc/14880

GenotypeDepth
all individuals: 2253
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 42450
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 710
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2115
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 106
bin: 3.75e1
variant carriers: 12

GenotypeDepth
all individuals: 1639
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 3

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

GenotypeDepth
all individuals: 230
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 2

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

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

GenotypeDepth
all individuals: 37
bin: 4.25e1
variant carriers: 3

GenotypeDepth
all individuals: 9665
bin: 2.75e1
variant carriers: 6

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

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2099
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48807
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3041
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 9.75e1
variant carriers: 36

GenotypeQuality
all individuals: 564
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.67689573062347e-5
allele num: 59634
num of homozygotes: 0

South Asian
type: Population
allele count: 37
allele frequency: 2.320622177621676e-3
allele num: 15944
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.264967e6

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-2

FS
type: SiteQuality
SIO_000300: 2.847e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

QD
type: SiteQuality
SIO_000300: 7.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000130299
ensembl protein: ENSP00000469008
ensembl transcript: ENST00000600610
gene symbol: GTPBP3
hgvsc: ENST00000600610.1:c.*55T>A
variant of: http://identifiers.org/hgnc/14880

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000130299
ensembl transcript: ENST00000596941
gene symbol: GTPBP3
hgvsc: ENST00000596941.1:n.165T>A
variant of: http://identifiers.org/hgnc/14880

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

GenotypeDepth
all individuals: 2075
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2247
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 3.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 264
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 814
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9695
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 42310
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48703
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2420
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.246882793017456e-3
allele num: 802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
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European (Non-Finnish)
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African
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Latino
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BaseQRankSum
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VQSLOD
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DP
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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East Asian
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MQRankSum
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FS
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VQSLOD
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QD
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DP
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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East Asian
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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FS
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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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 (Finnish)
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FS
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DP
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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South Asian
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allele frequency: 6.2266500622665e-5
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59480
num of homozygotes: 0

Latino
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num of homozygotes: 0

MQRankSum
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SIO_000300: -9.13e-1

ReadPosRankSum
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DP
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ClippingRankSum
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SIO_000300: -1.057e0

FS
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SIO_000300: 3.422e0

InbreedingCoeff
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MQ
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VQSLOD
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BaseQRankSum
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QD
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variant carriers: 1

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

European (Non-Finnish)
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allele num: 59380
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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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ReadPosRankSum
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SIO_000300: 6.0e-3

MQRankSum
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MQ
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DP
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FS
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SIO_000300: 1.072e0

BaseQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 8.200000000000001e-3

VQSLOD
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11130
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 (Non-Finnish)
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allele count: 1
allele frequency: 1.685999460480173e-5
allele num: 59312
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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DP
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FS
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.936e1

GenotypeDepth
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variant carriers: 0

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

Latino
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num of homozygotes: 0

European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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East Asian
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Other
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ClippingRankSum
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FS
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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Other
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South Asian
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DP
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MQ
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QD
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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Other
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Latino
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MQRankSum
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VQSLOD
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QD
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MQ
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ReadPosRankSum
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DP
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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Other
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European (Non-Finnish)
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African
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ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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MQRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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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Other
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Latino
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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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European (Non-Finnish)
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allele count: 2
allele frequency: 3.383865728207905e-5
allele num: 59104
num of homozygotes: 0

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

European (Finnish)
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Other
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East Asian
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Latino
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African
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European (Non-Finnish)
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8114
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

FS
type: SiteQuality
SIO_000300: 5.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.149e0

ClippingRankSum
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SIO_000300: -2.11e-1

InbreedingCoeff
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SIO_000300: -3.6e-3

DP
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SIO_000300: 1.258886e6

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.245e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 585
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11072
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6194
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: 0
allele frequency: 0.0e0
allele num: 58842
num of homozygotes: 0

East Asian
type: Population
allele count: 25
allele frequency: 3.08413520848754e-3
allele num: 8106
num of homozygotes: 1

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

FS
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QD
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SIO_000300: 1.36e1

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

VQSLOD
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SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 322
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.704274319994546e-5
allele num: 58676
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7668
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.345e0

MQ
type: SiteQuality
SIO_000300: 5.542e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 6.71e0

FS
type: SiteQuality
SIO_000300: 3.732e0

DP
type: SiteQuality
SIO_000300: 1.250797e6

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.717799841962415e-5
allele num: 58214
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16008
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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VQSLOD
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QD
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BaseQRankSum
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SIO_000300: 1.17e0

FS
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58050
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7580
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

South Asian
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allele count: 0
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num of homozygotes: 0

East Asian
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allele num: 8064
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QD
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SIO_000300: 6.42e0

InbreedingCoeff
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ClippingRankSum
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VQSLOD
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FS
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.97e-1

DP
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.455425017277125e-5
allele num: 57880
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10926
num of homozygotes: 0

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

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

Other
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DP
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InbreedingCoeff
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MQ
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BaseQRankSum
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MQRankSum
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FS
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

Other
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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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MQRankSum
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SIO_000300: 5.18e-1

DP
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ReadPosRankSum
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QD
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FS
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele num: 15066
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European (Finnish)
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allele count: 0
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Other
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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DP
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QD
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variant carriers: 2953

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2430

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1756

GenotypeQuality
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GenotypeQuality
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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: 4087
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variant carriers: 1508

African
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allele count: 6949
allele frequency: 8.530567149521238e-1
allele num: 8146
num of homozygotes: 2947

East Asian
type: Population
allele count: 1956
allele frequency: 2.769753610875106e-1
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num of homozygotes: 233

European (Finnish)
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allele count: 3898
allele frequency: 8.154811715481172e-1
allele num: 4780
num of homozygotes: 1573

Latino
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allele frequency: 4.755060728744939e-1
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num of homozygotes: 1037

South Asian
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allele count: 9658
allele frequency: 6.277135057844794e-1
allele num: 15386
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European (Non-Finnish)
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allele count: 39847
allele frequency: 7.138736608262568e-1
allele num: 55818
num of homozygotes: 13986

Other
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allele num: 734
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BaseQRankSum
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SIO_000300: -9.62e-1

InbreedingCoeff
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SIO_000300: 1.195e-1

ClippingRankSum
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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QD
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Other
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East Asian
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Latino
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European (Non-Finnish)
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DP
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QD
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VQSLOD
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MQ
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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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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European (Non-Finnish)
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DP
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MQRankSum
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Finnish)
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Latino
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African
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Other
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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DP
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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MQRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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VQSLOD
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QD
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MQRankSum
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DP
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SIO_000300: 9.53629e5

GenotypeDepth
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19098
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1951
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4636
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3388
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 6.75e1
variant carriers: 0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15617
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17
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variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
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variant carriers: 0

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

GenotypeDepth
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 4352
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1909
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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variant carriers: 0

GenotypeQuality
all individuals: 592
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variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.243259006684912e-5
allele num: 44578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5924
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.382253063635022e-5
allele num: 13546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

DP
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SIO_000300: 9.01543e5

BaseQRankSum
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SIO_000300: -1.2e0

ReadPosRankSum
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SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.008e0

QD
type: SiteQuality
SIO_000300: 1.308e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 7089
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6870
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 168
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variant carriers: 0

GenotypeDepth
all individuals: 4472
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variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3470
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variant carriers: 0

GenotypeDepth
all individuals: 44
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variant carriers: 0

GenotypeDepth
all individuals: 92
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 17
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variant carriers: 0

GenotypeDepth
all individuals: 11
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variant carriers: 0

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeDepth
all individuals: 1882
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variant carriers: 0

GenotypeDepth
all individuals: 272
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variant carriers: 0

GenotypeDepth
all individuals: 29
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variant carriers: 0

GenotypeDepth
all individuals: 19
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variant carriers: 1

GenotypeQuality
all individuals: 1935
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variant carriers: 0

GenotypeQuality
all individuals: 963
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variant carriers: 1

GenotypeQuality
all individuals: 11969
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variant carriers: 0

GenotypeQuality
all individuals: 137
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
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variant carriers: 0

GenotypeQuality
all individuals: 554
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variant carriers: 0

GenotypeQuality
all individuals: 25597
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variant carriers: 0

GenotypeQuality
all individuals: 231
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variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3687
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variant carriers: 0

GenotypeQuality
all individuals: 450
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 123
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variant carriers: 0

GenotypeQuality
all individuals: 4541
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variant carriers: 0

GenotypeQuality
all individuals: 803
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variant carriers: 2

GenotypeQuality
all individuals: 432
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variant carriers: 0

GenotypeQuality
all individuals: 4298
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.481042654028436e-4
allele num: 13504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44136
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 4.367e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.305e0

VQSLOD
type: SiteQuality
SIO_000300: -4.1e-2

DP
type: SiteQuality
SIO_000300: 8.93088e5

QD
type: SiteQuality
SIO_000300: 1.15e1

MQRankSum
type: SiteQuality
SIO_000300: 5.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeDepth
all individuals: 18
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 168
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
all individuals: 29
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variant carriers: 0

GenotypeDepth
all individuals: 446
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 272
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variant carriers: 0

GenotypeDepth
all individuals: 1851
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19581
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 4649
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variant carriers: 0

GenotypeDepth
all individuals: 110
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variant carriers: 0

GenotypeDepth
all individuals: 6642
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variant carriers: 1

GenotypeDepth
all individuals: 44
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variant carriers: 0

GenotypeDepth
all individuals: 37
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variant carriers: 0

GenotypeDepth
all individuals: 17
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variant carriers: 0

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 4647
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 445
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variant carriers: 0

GenotypeQuality
all individuals: 595
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variant carriers: 0

GenotypeQuality
all individuals: 4461
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variant carriers: 0

GenotypeQuality
all individuals: 592
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variant carriers: 0

GenotypeQuality
all individuals: 25607
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
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variant carriers: 0

GenotypeQuality
all individuals: 426
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variant carriers: 0

GenotypeQuality
all individuals: 3879
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 580
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variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
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variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 10667
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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
all individuals: 137
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variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5754
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.151223976206818e-5
allele num: 43710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2988
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5876
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

QD
type: SiteQuality
SIO_000300: 6.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

DP
type: SiteQuality
SIO_000300: 8.79678e5

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.36e-1

FS
type: SiteQuality
SIO_000300: 4.741e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: -1.037e0

GenotypeDepth
all individuals: 6642
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1851
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variant carriers: 0

GenotypeDepth
all individuals: 92
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variant carriers: 0

GenotypeDepth
all individuals: 17
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variant carriers: 0

GenotypeDepth
all individuals: 29
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variant carriers: 0

GenotypeDepth
all individuals: 19581
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
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variant carriers: 0

GenotypeDepth
all individuals: 4649
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16233
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6453
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 110
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variant carriers: 0

GenotypeDepth
all individuals: 272
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variant carriers: 0

GenotypeDepth
all individuals: 3612
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 11
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variant carriers: 0

GenotypeDepth
all individuals: 18
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variant carriers: 0

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeDepth
all individuals: 446
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 168
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variant carriers: 0

GenotypeDepth
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 445
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variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10667
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2019
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variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3879
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25607
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4647
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
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variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4461
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
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variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
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variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 574
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.701837985023826e-4
allele num: 5876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43710
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2988
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

QD
type: SiteQuality
SIO_000300: 6.68e0

ClippingRankSum
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SIO_000300: 5.23e-1

MQRankSum
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SIO_000300: 3.23e-1

FS
type: SiteQuality
SIO_000300: 4.741e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
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SIO_000300: -1.037e0

DP
type: SiteQuality
SIO_000300: 8.79678e5

BaseQRankSum
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SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.36e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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bin: 7.5e0
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 2.5e0
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GenotypeDepth
all individuals: 443
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 17
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GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 11
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 1090
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 123
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variant carriers: 0

GenotypeQuality
all individuals: 562
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variant carriers: 0

GenotypeQuality
all individuals: 4467
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 417
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variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 432
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 5.75e1
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GenotypeQuality
all individuals: 1328
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4730
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4046
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2026
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
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variant carriers: 0

GenotypeQuality
all individuals: 134
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variant carriers: 0

GenotypeQuality
all individuals: 229
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variant carriers: 0

GenotypeQuality
all individuals: 26207
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43030
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.733102253032929e-4
allele num: 5770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13320
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.06e0

DP
type: SiteQuality
SIO_000300: 8.65684e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.193e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

MQRankSum
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

GenotypeDepth
all individuals: 44
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4827
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1600
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 18312
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20186
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4681
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4915
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4547
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 37
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 641
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1745
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2141
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4696
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5167
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2889
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25258
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7282
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 570
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4962
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5048
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.532671461857968e-5
allele num: 39484
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.078e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
type: SiteQuality
SIO_000300: 8.09781e5

GenotypeDepth
all individuals: 167
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 43
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18695
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4915
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1576
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4654
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 438
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4495
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4682
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 20101
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4949
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27039
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1519
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 512
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4643
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5133
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8295
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.017309718528925e-5
allele num: 39862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5092
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.09293e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.835e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-2

FS
type: SiteQuality
SIO_000300: 1.2245e1

QD
type: SiteQuality
SIO_000300: 5.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000130299
ensembl protein: ENSP00000354598
ensembl transcript: ENST00000361619
gene symbol: GTPBP3
hgvsc: ENST00000361619.5:c.312C>T
hgvsp: ENST00000361619.5:c.312C>T(p.%3D)
variant of: http://identifiers.org/hgnc/14880

GenotypeDepth
all individuals: 18861
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4081
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4519
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5754
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3885
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 92
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 18
bin: 9.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 435
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1467
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20558
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24918
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2337
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5038
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6483
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4684
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6304
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3021
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2089
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1215
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36302
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.101101749837978e-5
allele num: 12344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.26e0

DP
type: SiteQuality
SIO_000300: 7.66234e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.794e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

MQ
type: SiteQuality
SIO_000300: 5.848e1

FS
type: SiteQuality
SIO_000300: 3.16e0

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

VQSLOD
type: SiteQuality
SIO_000300: -3.943e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.645e0

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000130299
ensembl protein: ENSP00000471657
ensembl transcript: ENST00000601213
gene symbol: GTPBP3
hgvsc: ENST00000601213.1:c.303G>A
hgvsp: ENST00000601213.1:c.303G>A(p.%3D)
variant of: http://identifiers.org/hgnc/14880

GenotypeDepth
all individuals: 42
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20845
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4013
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 167
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1457
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5871
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 4522
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 266
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 433
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 18600
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 28
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3820
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6415
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 492
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4675
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3157
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 24757
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5016
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2102
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4852
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.56823876607829e-5
allele num: 35918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.409171075837742e-4
allele num: 2268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.61614e5

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 2.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

FS
type: SiteQuality
SIO_000300: 4.786e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000130299
ensembl protein: ENSP00000471657
ensembl transcript: ENST00000601213
gene symbol: GTPBP3
hgvsc: ENST00000601213.1:c.305G>C
hgvsp: ENSP00000471657.1:p.Arg102Pro
variant of: http://identifiers.org/hgnc/14880

GenotypeDepth
all individuals: 167
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21072
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4430
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4024
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18441
bin: 1.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 3828
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5885
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 36
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 431
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1457
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 28
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4600
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4984
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2748
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6415
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6593
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 729
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 2.070393374741201e-4
allele num: 4830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.326663564448581e-4
allele num: 4298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2256
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

FS
type: SiteQuality
SIO_000300: 2.966e0

DP
type: SiteQuality
SIO_000300: 7.60301e5

VQSLOD
type: SiteQuality
SIO_000300: -2.287e-1

MQ
type: SiteQuality
SIO_000300: 5.682e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 9.48e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000130299
ensembl transcript: ENST00000599429
gene symbol: GTPBP3
hgvsc: ENST00000599429.1:n.351C>T
variant of: http://identifiers.org/hgnc/14880

GenotypeDepth
all individuals: 28
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21698
bin: 7.5e0
variant carriers: 11

GenotypeDepth
all individuals: 17779
bin: 1.25e1
variant carriers: 17

GenotypeDepth
all individuals: 11
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3751
bin: 2.25e1
variant carriers: 2

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

GenotypeDepth
all individuals: 18
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 419
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1432
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 37
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6149
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3875
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 42
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4457
bin: 1.75e1
variant carriers: 9

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

GenotypeDepth
all individuals: 91
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 260
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 527
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3423
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 348
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4646
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2723
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6168
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24011
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1204
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 833
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6608
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 556
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2116
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4982
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 138
bin: 9.25e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

African
type: Population
allele count: 32
allele frequency: 6.771053745239103e-3
allele num: 4726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34554
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.918649270913277e-4
allele num: 5212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4022
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

DP
type: SiteQuality
SIO_000300: 7.50378e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1