2-71300720-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71300720
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71300720
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.422T>C
  hgvsp: ENSP00000396070.3:p.Phe141Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.713T>C
  hgvsp: ENSP00000389087.2:p.Phe238Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.649T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*751T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.257T>C
  hgvsp: ENSP00000431204.1:p.Phe86Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.131T>C
  hgvsp: ENSP00000404531.3:p.Phe44Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1324T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000408550
  ensembl transcript: ENST00000455197
  gene symbol: NAGK
  hgvsc: ENST00000455197.1:c.*349T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.54T>C
  hgvsp: ENSP00000437192.1:p.Phe19Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2398T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.575T>C
  hgvsp: ENSP00000411846.3:p.Phe192Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.499T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.131T>C
  hgvsp: ENSP00000436326.1:p.Phe44Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3800T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.535T>C
  hgvsp: ENSP00000435437.1:p.Phe179Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.575T>C
  hgvsp: ENSP00000244204.5:p.Phe192Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.302T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.576T>C
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe238Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

2-71300721-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71300721
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71300721
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.258C>G
  hgvsp: ENSP00000431204.1:p.Phe86Leu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.576C>G
  hgvsp: ENSP00000244204.5:p.Phe192Leu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.536C>G
  hgvsp: ENSP00000435437.1:p.Phe179Leu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.132C>G
  hgvsp: ENSP00000404531.3:p.Phe44Leu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.55C>G
  hgvsp: ENSP00000437192.1:p.Phe19Leu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3801C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.576C>G
  hgvsp: ENSP00000411846.3:p.Phe192Leu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2399C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*752C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.714C>G
  hgvsp: ENSP00000389087.2:p.Phe238Leu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1325C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.303C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.650C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.132C>G
  hgvsp: ENSP00000436326.1:p.Phe44Leu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.423C>G
  hgvsp: ENSP00000396070.3:p.Phe141Leu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.577C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000408550
  ensembl transcript: ENST00000455197
  gene symbol: NAGK
  hgvsc: ENST00000455197.1:c.*350C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.500C>G
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe238Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-71300727-ACTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71300727
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71300724
    reference: chr 2
allele count: 306
allele frequency: 2.520426989984185e-3
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*755+9_*755+11delCCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3804+9_3804+11delCCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.261+9_261+11delCCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.717+9_717+11delCCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.306+9_306+11delCCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.653+9_653+11delCCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.579+9_579+11delCCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.135+9_135+11delCCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1328+9_1328+11delCCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.579+9_579+11delCCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.580+9_580+11delCCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.503+9_503+11delCCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+9_58+11delCCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.426+9_426+11delCCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.539+9_539+11delCCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2402+9_2402+11delCCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.135+9_135+11delCCT
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 12370
  bin: 9.75e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.717+9_717+11delCCT
num of homozygotes: 2
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: ACTC
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-71300728-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71300728
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71300728
    reference: chr 2
allele count: 1
allele frequency: 8.278145695364238e-6
allele num: 120800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+4C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.426+4C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.653+4C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.135+4C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.579+4C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.503+4C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.306+4C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.717+4C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.539+4C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.579+4C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1328+4C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.580+4C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3804+4C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*755+4C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2402+4C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.261+4C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.135+4C>G
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.717+4C>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-71300730-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71300730
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71300730
    reference: chr 2
allele count: 5
allele frequency: 4.123167252156417e-5
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.306+6C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.503+6C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+6C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.539+6C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.426+6C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.717+6C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.261+6C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*755+6C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.579+6C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.135+6C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.580+6C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2402+6C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1328+6C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3804+6C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.135+6C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.579+6C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.653+6C>T
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.717+6C>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-71300731-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71300731
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71300731
    reference: chr 2
allele count: 29
allele frequency: 2.400662251655629e-4
allele num: 120800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.426+7C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.653+7C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.579+7C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.261+7C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.135+7C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3804+7C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.580+7C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.135+7C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.579+7C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.717+7C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+7C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*755+7C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.306+7C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.539+7C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.503+7C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2402+7C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1328+7C>A
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.717+7C>A
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-71300733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71300733
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71300733
    reference: chr 2
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.306+9C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.503+9C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.579+9C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.539+9C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.426+9C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.261+9C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.579+9C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.653+9C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.717+9C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.580+9C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2402+9C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1328+9C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.135+9C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+9C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3804+9C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.135+9C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*755+9C>T
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-71300751-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71300751
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71300751
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+27G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.653+27G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*755+27G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.503+27G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.135+27G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.539+27G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3804+27G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.426+27G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2402+27G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.579+27G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.306+27G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.717+27G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.261+27G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.135+27G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.579+27G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1328+27G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.580+27G>A
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-71300752-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71300752
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71300752
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.579+28C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2402+28C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1328+28C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.580+28C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+28C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.261+28C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*755+28C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.717+28C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.135+28C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.653+28C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3804+28C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.306+28C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.426+28C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.135+28C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.579+28C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.539+28C>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.503+28C>A
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-71300753-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71300753
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71300753
    reference: chr 2
allele count: 5
allele frequency: 4.118548294097296e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.135+29G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+29G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.717+29G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.539+29G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3804+29G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2402+29G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.135+29G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.579+29G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*755+29G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.306+29G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.426+29G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.653+29G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.579+29G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1328+29G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.580+29G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.261+29G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.503+29G>A
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

2-71300754-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71300754
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71300754
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*755+30C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.539+30C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.579+30C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.503+30C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.426+30C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.135+30C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.579+30C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.717+30C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.580+30C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.135+30C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1328+30C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3804+30C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.306+30C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+30C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.261+30C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2402+30C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.653+30C>T
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

2-71300760-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71300760
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71300760
    reference: chr 2
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.306+36G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2402+36G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*755+36G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+36G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.579+36G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.579+36G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.503+36G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.653+36G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3804+36G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.539+36G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.261+36G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.717+36G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.135+36G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.580+36G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.426+36G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.135+36G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1328+36G>C
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

2-71300766-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71300766
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71300766
    reference: chr 2
allele count: 4
allele frequency: 3.295110056675893e-5
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2402+42G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.717+42G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.426+42G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3804+42G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.580+42G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.135+42G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.135+42G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.579+42G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.579+42G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.653+42G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.261+42G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+42G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.306+42G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1328+42G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.539+42G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.503+42G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*755+42G>C
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

2-71300767-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71300767
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71300767
    reference: chr 2
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2402+43G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.653+43G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.426+43G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.135+43G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.503+43G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.579+43G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.306+43G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+43G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.579+43G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.717+43G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.135+43G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*755+43G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.580+43G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.261+43G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3804+43G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.539+43G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1328+43G>A
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-71300768-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71300768
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71300768
    reference: chr 2
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.135+44C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.135+44C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.717+44C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.426+44C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2402+44C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.579+44C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.580+44C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+44C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.261+44C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.306+44C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.539+44C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.579+44C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1328+44C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.503+44C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.653+44C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*755+44C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3804+44C>T
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-71302637-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302637
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302637
    reference: chr 2
allele count: 1
allele frequency: 8.682364381468362e-6
allele num: 115176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.136-48G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1913G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.136-48G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.504-48G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.654-48G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*756-48G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.581-48G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.888G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2403-48G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.718-48G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.540-55G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.262-48G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.92G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3805-48G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.307-48G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.580-48G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1329-48G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.427-48G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.580-48G>T
  variant of: http://identifiers.org/hgnc/17174
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

2-71302644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302644
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302644
    reference: chr 2
allele count: 1
allele frequency: 8.663859576163989e-6
allele num: 115422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.427-41C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.136-41C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1920C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2403-41C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*756-41C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1329-41C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.895C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3805-41C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.136-41C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.580-41C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.504-41C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.581-41C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.99C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.580-41C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.540-48C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.262-41C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.718-41C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.307-41C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.654-41C>T
  variant of: http://identifiers.org/hgnc/17174
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

2-71302650-T-TTCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302650
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302653
    reference: chr 2
allele count: 2
allele frequency: 1.72458394412348e-5
allele num: 115970
alternate allele: TTCA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.504-33_504-32insATC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.903_904insATC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.718-33_718-32insATC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1928_58+1929insATC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.427-33_427-32insATC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3805-33_3805-32insATC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1329-33_1329-32insATC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.580-33_580-32insATC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.307-33_307-32insATC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.654-33_654-32insATC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.580-33_580-32insATC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.107_108insATC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.136-33_136-32insATC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.581-33_581-32insATC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.262-33_262-32insATC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*756-33_*756-32insATC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2403-33_2403-32insATC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.540-40_540-39insATC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.136-33_136-32insATC
  variant of: http://identifiers.org/hgnc/17174
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-71302656-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302656
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302656
    reference: chr 2
allele count: 4
allele frequency: 3.437430177199526e-5
allele num: 116366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.136-29T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.654-29T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.718-29T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1932T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.427-29T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3805-29T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.907T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.580-29T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1329-29T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2403-29T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.111T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.581-29T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.540-36T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.262-29T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.136-29T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.580-29T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*756-29T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.504-29T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.307-29T>A
  variant of: http://identifiers.org/hgnc/17174
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13630
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

2-71302658-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302658
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302656
    reference: chr 2
allele count: 2
allele frequency: 1.716738197424893e-5
allele num: 116500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.136-22_136-21delCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.427-22_427-21delCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.136-22_136-21delCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.540-29_540-28delCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.504-22_504-21delCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.580-22_580-21delCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.654-22_654-21delCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.580-22_580-21delCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*756-22_*756-21delCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.581-22_581-21delCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.118_119delCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3805-22_3805-21delCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1939_58+1940delCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2403-22_2403-21delCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.914_915delCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.307-22_307-21delCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.718-22_718-21delCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1329-22_1329-21delCT
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.262-22_262-21delCT
  variant of: http://identifiers.org/hgnc/17174
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: ACT
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

2-71302659-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302659
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302659
    reference: chr 2
allele count: 1
allele frequency: 8.578978072132047e-6
allele num: 116564
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.114C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2403-26C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3805-26C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1935C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.580-26C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.427-26C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.580-26C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.262-26C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*756-26C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.136-26C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.910C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.540-33C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.718-26C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.654-26C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.581-26C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1329-26C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.504-26C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.307-26C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.136-26C>G
  variant of: http://identifiers.org/hgnc/17174
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

2-71302660-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302660
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302660
    reference: chr 2
allele count: 1
allele frequency: 8.570742911995611e-6
allele num: 116676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1936T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*756-25T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3805-25T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.136-25T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.911T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.581-25T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.580-25T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.136-25T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.262-25T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.427-25T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.540-32T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1329-25T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.115T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.654-25T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2403-25T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.718-25T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.504-25T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.580-25T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.307-25T>C
  variant of: http://identifiers.org/hgnc/17174
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

2-71302665-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302665
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302665
    reference: chr 2
allele count: 36
allele frequency: 3.073822981949828e-4
allele num: 117118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.540-27T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.120T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.580-20T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1941T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2403-20T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.136-20T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.262-20T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.136-20T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.427-20T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.504-20T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.580-20T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.916T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*756-20T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.581-20T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3805-20T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.654-20T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1329-20T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.718-20T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.307-20T>C
  variant of: http://identifiers.org/hgnc/17174
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

2-71302666-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302666
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302666
    reference: chr 2
allele count: 1
allele frequency: 8.531549670682182e-6
allele num: 117212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.427-19G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1942G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.136-19G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.654-19G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.540-26G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.917G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3805-19G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.121G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.307-19G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*756-19G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.718-19G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.580-19G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2403-19G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.581-19G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.136-19G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1329-19G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.504-19G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.580-19G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.262-19G>A
  variant of: http://identifiers.org/hgnc/17174
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-71302674-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302674
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302671
    reference: chr 2
allele count: 1
allele frequency: 8.454514710855598e-6
allele num: 118280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.540-14_540-12delCTC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.307-7_307-5delCTC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1329-7_1329-5delCTC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2403-7_2403-5delCTC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3805-7_3805-5delCTC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*756-7_*756-5delCTC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.133_135delCTC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.136-7_136-5delCTC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.580-7_580-5delCTC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.136-7_136-5delCTC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1954_58+1956delCTC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.427-7_427-5delCTC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.504-7_504-5delCTC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.654-7_654-5delCTC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.262-7_262-5delCTC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.581-7_581-5delCTC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.718-7_718-5delCTC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.929_931delCTC
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.580-7_580-5delCTC
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.718-7_718-5delCTC
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: TCTC
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

2-71302675-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302675
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302675
    reference: chr 2
allele count: 1
allele frequency: 8.448943037226043e-6
allele num: 118358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.580-10C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.581-10C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1329-10C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.718-10C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3805-10C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*756-10C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.540-17C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.427-10C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.926C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.307-10C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2403-10C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.136-10C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.504-10C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.136-10C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.580-10C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.654-10C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.262-10C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.130C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1951C>G
  variant of: http://identifiers.org/hgnc/17174
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

2-71302679-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302679
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302679
    reference: chr 2
allele count: 2
allele frequency: 1.682793437105595e-5
allele num: 118850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.262-6T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.427-6T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.930T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1329-6T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2403-6T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.307-6T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1955T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.136-6T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3805-6T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.504-6T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*756-6T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.581-6T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.136-6T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.134T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.654-6T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.540-13T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.718-6T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.580-6T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.580-6T>A
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.718-6T>A
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

2-71302680-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302680
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302680
    reference: chr 2
allele count: 1
allele frequency: 8.408731626921395e-6
allele num: 118924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2403-5C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.931C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.427-5C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.135C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3805-5C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*756-5C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1329-5C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.540-12C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.654-5C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.136-5C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.136-5C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.504-5C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1956C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.718-5C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.581-5C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.580-5C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.580-5C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.262-5C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.307-5C>T
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.718-5C>T
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

2-71302682-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302682
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302682
    reference: chr 2
allele count: 4
allele frequency: 3.356831151393085e-5
allele num: 119160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.137C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*756-3C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.136-3C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.307-3C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.540-10C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.262-3C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.580-3C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.654-3C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.580-3C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2403-3C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1958C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.427-3C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.581-3C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.136-3C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1329-3C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3805-3C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.504-3C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.718-3C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.933C>T
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.718-3C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-71302683-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302683
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302683
    reference: chr 2
allele count: 1
allele frequency: 8.382510729613734e-6
allele num: 119296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.504-2A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.580-2A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.307-2A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.718-2A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1329-2A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*756-2A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.654-2A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.136-2A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2403-2A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.262-2A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.580-2A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.136-2A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3805-2A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.138A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1959A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.934A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.427-2A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.540-9A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.581-2A>G
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.718-2A>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

2-71302686-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302686
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302686
    reference: chr 2
allele count: 89
allele frequency: 7.44545576228082e-4
allele num: 119536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.428T>C
  hgvsp: ENSP00000396070.3:p.Val143Ala
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1330T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3806T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.137T>C
  hgvsp: ENSP00000404531.3:p.Val46Ala
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.581T>C
  hgvsp: ENSP00000244204.5:p.Val194Ala
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.308T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.719T>C
  hgvsp: ENSP00000389087.2:p.Val240Ala
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.505T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.937T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.137T>C
  hgvsp: ENSP00000436326.1:p.Val46Ala
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.581T>C
  hgvsp: ENSP00000411846.3:p.Val194Ala
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.655T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2404T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.582T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1962T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*757T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.141T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.263T>C
  hgvsp: ENSP00000431204.1:p.Val88Ala
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.540-6T>C
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val240Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

2-71302690-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302690
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302690
    reference: chr 2
allele count: 1
allele frequency: 8.3462700519138e-6
allele num: 119814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*761A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3810A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2408A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.723A>G
  hgvsp: ENST00000455662.2:c.723A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.312A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.585A>G
  hgvsp: ENST00000443938.2:c.585A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.141A>G
  hgvsp: ENST00000443872.2:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.540-2A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.267A>G
  hgvsp: ENST00000529236.1:c.267A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.585A>G
  hgvsp: ENST00000244204.6:c.585A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1966A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.659A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.586A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.141A>G
  hgvsp: ENST00000531934.1:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1334A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.941A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.432A>G
  hgvsp: ENST00000418807.3:c.432A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.145A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.509A>G
  variant of: http://identifiers.org/hgnc/17174
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.540-2A>G
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-71302694-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302694
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302694
    reference: chr 2
allele count: 1
allele frequency: 8.331250520703158e-6
allele num: 120030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*765C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.589C>T
  hgvsp: ENSP00000244204.5:p.Arg197Trp
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.436C>T
  hgvsp: ENSP00000396070.3:p.Arg146Trp
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.149C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.145C>T
  hgvsp: ENSP00000404531.3:p.Arg49Trp
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.145C>T
  hgvsp: ENSP00000436326.1:p.Arg49Trp
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.316C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.663C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.590C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.727C>T
  hgvsp: ENSP00000389087.2:p.Arg243Trp
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2412C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3814C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.542C>T
  hgvsp: ENST00000524736.1:c.542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1970C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.589C>T
  hgvsp: ENSP00000411846.3:p.Arg197Trp
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.945C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1338C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.513C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.271C>T
  hgvsp: ENSP00000431204.1:p.Arg91Trp
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg243Trp
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

2-71302695-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302695
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302695
    reference: chr 2
allele count: 1
allele frequency: 8.326810664979099e-6
allele num: 120094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2413G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1339G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1971G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.150G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.591G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.590G>T
  hgvsp: ENSP00000244204.5:p.Arg197Leu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.437G>T
  hgvsp: ENSP00000396070.3:p.Arg146Leu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.590G>T
  hgvsp: ENSP00000411846.3:p.Arg197Leu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.146G>T
  hgvsp: ENSP00000436326.1:p.Arg49Leu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.664G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.728G>T
  hgvsp: ENSP00000389087.2:p.Arg243Leu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.146G>T
  hgvsp: ENSP00000404531.3:p.Arg49Leu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.543G>T
  hgvsp: ENSP00000435437.1:p.Gly182Cys
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*766G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3815G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.514G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.272G>T
  hgvsp: ENSP00000431204.1:p.Arg91Leu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.946G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.317G>T
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg243Leu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

2-71302699-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302699
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302699
    reference: chr 2
allele count: 1
allele frequency: 8.310203267571925e-6
allele num: 120334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.950A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.595A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.732A>G
  hgvsp: ENST00000455662.2:c.732A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.547A>G
  hgvsp: ENSP00000435437.1:p.Ter183TrpextTer49
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.668A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*770A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.150A>G
  hgvsp: ENST00000443872.2:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.321A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.594A>G
  hgvsp: ENST00000443938.2:c.594A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1975A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.276A>G
  hgvsp: ENST00000529236.1:c.276A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.518A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.594A>G
  hgvsp: ENST00000244204.6:c.594A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.441A>G
  hgvsp: ENST00000418807.3:c.441A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.154A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1343A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3819A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2417A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.150A>G
  hgvsp: ENST00000531934.1:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16489
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter183TrpextTer49
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

2-71302700-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302700
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302700
    reference: chr 2
allele count: 20
allele frequency: 1.671402306535183e-4
allele num: 119660
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.733G>A
  hgvsp: ENSP00000389087.2:p.Gly245Arg
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1976G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.595G>A
  hgvsp: ENSP00000411846.3:p.Gly199Arg
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.519G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.442G>A
  hgvsp: ENSP00000396070.3:p.Gly148Arg
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.155G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.322G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.277G>A
  hgvsp: ENSP00000431204.1:p.Gly93Arg
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*771G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.548G>A
  hgvsp: ENST00000524736.1:c.548G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.151G>A
  hgvsp: ENSP00000404531.3:p.Gly51Arg
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.151G>A
  hgvsp: ENSP00000436326.1:p.Gly51Arg
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2418G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.951G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.595G>A
  hgvsp: ENSP00000244204.5:p.Gly199Arg
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.669G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3820G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.596G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1344G>A
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly245Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-71302701-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302701
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302701
    reference: chr 2
allele count: 48
allele frequency: 3.985982627759047e-4
allele num: 120422
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.152G>C
  hgvsp: ENSP00000436326.1:p.Gly51Ala
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*772G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2419G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.952G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.443G>C
  hgvsp: ENSP00000396070.3:p.Gly148Ala
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.520G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.596G>C
  hgvsp: ENSP00000244204.5:p.Gly199Ala
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.156G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.597G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.152G>C
  hgvsp: ENSP00000404531.3:p.Gly51Ala
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1977G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.323G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.734G>C
  hgvsp: ENSP00000389087.2:p.Gly245Ala
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*1G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.278G>C
  hgvsp: ENSP00000431204.1:p.Gly93Ala
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.596G>C
  hgvsp: ENSP00000411846.3:p.Gly199Ala
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3821G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1345G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.670G>C
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly245Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-71302702-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302702
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302702
    reference: chr 2
allele count: 2
allele frequency: 1.660412446451699e-5
allele num: 120452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.597G>T
  hgvsp: ENST00000244204.6:c.597G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.735G>T
  hgvsp: ENST00000455662.2:c.735G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.324G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.157G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.153G>T
  hgvsp: ENST00000531934.1:c.153G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3822G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*2G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.153G>T
  hgvsp: ENST00000443872.2:c.153G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1978G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.671G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.953G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.597G>T
  hgvsp: ENST00000443938.2:c.597G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.444G>T
  hgvsp: ENST00000418807.3:c.444G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.598G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.521G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2420G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*773G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.279G>T
  hgvsp: ENST00000529236.1:c.279G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1346G>T
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly245Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-71302705-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302705
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302705
    reference: chr 2
allele count: 1
allele frequency: 8.298204268596276e-6
allele num: 120508
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.601A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.156A>G
  hgvsp: ENSP00000436326.1:p.Ile52Met
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1981A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.156A>G
  hgvsp: ENSP00000404531.3:p.Ile52Met
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.282A>G
  hgvsp: ENSP00000431204.1:p.Ile94Met
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.447A>G
  hgvsp: ENSP00000396070.3:p.Ile149Met
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2423A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*776A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.600A>G
  hgvsp: ENSP00000244204.5:p.Ile200Met
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.524A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.738A>G
  hgvsp: ENSP00000389087.2:p.Ile246Met
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*5A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.674A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.160A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1349A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3825A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.600A>G
  hgvsp: ENSP00000411846.3:p.Ile200Met
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.327A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.956A>G
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile246Met
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

2-71302706-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302706
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302706
    reference: chr 2
allele count: 1
allele frequency: 8.297240337863626e-6
allele num: 120522
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2424C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*6C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.601C>G
  hgvsp: ENSP00000411846.3:p.Leu201Val
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.448C>G
  hgvsp: ENSP00000396070.3:p.Leu150Val
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.601C>G
  hgvsp: ENSP00000244204.5:p.Leu201Val
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.739C>G
  hgvsp: ENSP00000389087.2:p.Leu247Val
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.328C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.157C>G
  hgvsp: ENSP00000436326.1:p.Leu53Val
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1982C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.525C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.157C>G
  hgvsp: ENSP00000404531.3:p.Leu53Val
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.675C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.283C>G
  hgvsp: ENSP00000431204.1:p.Leu95Val
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1350C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*777C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.957C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.161C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.602C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3826C>G
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu247Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff

2-71302706-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302706
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302706
    reference: chr 2
allele count: 1
allele frequency: 8.297240337863626e-6
allele num: 120522
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*6C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.739C>T
  hgvsp: ENSP00000389087.2:p.Leu247Phe
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.448C>T
  hgvsp: ENSP00000396070.3:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.601C>T
  hgvsp: ENSP00000411846.3:p.Leu201Phe
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.601C>T
  hgvsp: ENSP00000244204.5:p.Leu201Phe
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.157C>T
  hgvsp: ENSP00000436326.1:p.Leu53Phe
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.283C>T
  hgvsp: ENSP00000431204.1:p.Leu95Phe
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.525C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.328C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*777C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.58+1982C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.157C>T
  hgvsp: ENSP00000404531.3:p.Leu53Phe
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.602C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.957C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.675C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3826C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1350C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.161C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2424C>T
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu247Phe
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-71302710-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302710
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302710
    reference: chr 2
allele count: 1
allele frequency: 8.287888080359362e-6
allele num: 120658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.161C>G
  hgvsp: ENSP00000404531.3:p.Thr54Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*10C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.529C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.452C>G
  hgvsp: ENSP00000396070.3:p.Thr151Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*781C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3830C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1354C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.961C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.605C>G
  hgvsp: ENSP00000411846.3:p.Thr202Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.743C>G
  hgvsp: ENSP00000389087.2:p.Thr248Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.605C>G
  hgvsp: ENSP00000244204.5:p.Thr202Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.287C>G
  hgvsp: ENSP00000431204.1:p.Thr96Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2428C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.161C>G
  hgvsp: ENSP00000436326.1:p.Thr54Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.332C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1978C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.606C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.679C>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.165C>G
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr248Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

2-71302714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302714
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302714
    reference: chr 2
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1974C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.965C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.533C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.683C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*785C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2432C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.291C>T
  hgvsp: ENST00000529236.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*14C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.609C>T
  hgvsp: ENST00000244204.6:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.165C>T
  hgvsp: ENST00000531934.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1358C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.165C>T
  hgvsp: ENST00000443872.2:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.747C>T
  hgvsp: ENST00000455662.2:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.336C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.456C>T
  hgvsp: ENST00000418807.3:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3834C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.169C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.609C>T
  hgvsp: ENST00000443938.2:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.610C>T
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His249His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

2-71302715-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302715
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302715
    reference: chr 2
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.610C>T
  hgvsp: ENST00000443938.2:c.610C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.966C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.166C>T
  hgvsp: ENST00000443872.2:c.166C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.610C>T
  hgvsp: ENST00000244204.6:c.610C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.337C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.292C>T
  hgvsp: ENST00000529236.1:c.292C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3835C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.457C>T
  hgvsp: ENST00000418807.3:c.457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.166C>T
  hgvsp: ENST00000531934.1:c.166C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.611C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.170C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.748C>T
  hgvsp: ENST00000455662.2:c.748C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.534C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1973C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1359C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.684C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*786C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*15C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2433C>T
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu250Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-71302716-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302716
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302716
    reference: chr 2
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1972T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.458T>C
  hgvsp: ENSP00000396070.3:p.Leu153Pro
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.611T>C
  hgvsp: ENSP00000244204.5:p.Leu204Pro
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.535T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.685T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.749T>C
  hgvsp: ENSP00000389087.2:p.Leu250Pro
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3836T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.167T>C
  hgvsp: ENSP00000436326.1:p.Leu56Pro
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.167T>C
  hgvsp: ENSP00000404531.3:p.Leu56Pro
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.967T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*16T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.611T>C
  hgvsp: ENSP00000411846.3:p.Leu204Pro
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2434T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.293T>C
  hgvsp: ENSP00000431204.1:p.Leu98Pro
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1360T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.612T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.171T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.338T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*787T>C
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu250Pro
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

2-71302720-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302720
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302720
    reference: chr 2
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.171T>C
  hgvsp: ENST00000443872.2:c.171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3840T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*791T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.171T>C
  hgvsp: ENST00000531934.1:c.171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.616T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.615T>C
  hgvsp: ENST00000244204.6:c.615T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1364T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.753T>C
  hgvsp: ENST00000455662.2:c.753T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.175T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.342T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2438T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.462T>C
  hgvsp: ENST00000418807.3:c.462T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.297T>C
  hgvsp: ENST00000529236.1:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.971T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.615T>C
  hgvsp: ENST00000443938.2:c.615T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1968T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.689T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.539T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*20T>C
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr251Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

2-71302724-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302724
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302724
    reference: chr 2
allele count: 1
allele frequency: 8.275953389830508e-6
allele num: 120832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.543G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.619G>A
  hgvsp: ENSP00000411846.3:p.Asp207Asn
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.619G>A
  hgvsp: ENSP00000244204.5:p.Asp207Asn
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.301G>A
  hgvsp: ENSP00000431204.1:p.Asp101Asn
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.693G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.757G>A
  hgvsp: ENSP00000389087.2:p.Asp253Asn
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.975G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1964G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.175G>A
  hgvsp: ENSP00000404531.3:p.Asp59Asn
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2442G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*795G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.466G>A
  hgvsp: ENSP00000396070.3:p.Asp156Asn
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.346G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.620G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.175G>A
  hgvsp: ENSP00000436326.1:p.Asp59Asn
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.179G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1368G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3844G>A
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp253Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

2-71302725-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302725
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302725
    reference: chr 2
allele count: 1
allele frequency: 8.275268532463878e-6
allele num: 120842
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.758A>G
  hgvsp: ENSP00000389087.2:p.Asp253Gly
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.620A>G
  hgvsp: ENSP00000244204.5:p.Asp207Gly
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.176A>G
  hgvsp: ENSP00000436326.1:p.Asp59Gly
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*796A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.620A>G
  hgvsp: ENSP00000411846.3:p.Asp207Gly
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*25A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1963A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.544A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.467A>G
  hgvsp: ENSP00000396070.3:p.Asp156Gly
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2443A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.176A>G
  hgvsp: ENSP00000404531.3:p.Asp59Gly
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.347A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3845A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1369A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.302A>G
  hgvsp: ENSP00000431204.1:p.Asp101Gly
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.976A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.621A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.180A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.694A>G
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp253Gly
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-71302729-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302729
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302729
    reference: chr 2
allele count: 2
allele frequency: 1.654341820106871e-5
allele num: 120894
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.184T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1959T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1373T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.624T>C
  hgvsp: ENST00000244204.6:c.624T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.471T>C
  hgvsp: ENST00000418807.3:c.471T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.180T>C
  hgvsp: ENST00000531934.1:c.180T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.698T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2447T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.306T>C
  hgvsp: ENST00000529236.1:c.306T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*800T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.624T>C
  hgvsp: ENST00000443938.2:c.624T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.762T>C
  hgvsp: ENST00000455662.2:c.762T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.180T>C
  hgvsp: ENST00000443872.2:c.180T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*29T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3849T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.625T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.351T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.980T>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.548T>C
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17230
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe254Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-71302731-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302731
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302731
    reference: chr 2
allele count: 1
allele frequency: 8.271572260455268e-6
allele num: 120896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.626A>T
  hgvsp: ENSP00000411846.3:p.Asp209Val
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*802A>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.186A>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.764A>T
  hgvsp: ENSP00000389087.2:p.Asp255Val
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.700A>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3851A>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.308A>T
  hgvsp: ENSP00000431204.1:p.Asp103Val
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.626A>T
  hgvsp: ENSP00000244204.5:p.Asp209Val
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.182A>T
  hgvsp: ENSP00000404531.3:p.Asp61Val
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.182A>T
  hgvsp: ENSP00000436326.1:p.Asp61Val
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*31A>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1375A>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.473A>T
  hgvsp: ENSP00000396070.3:p.Asp158Val
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.627A>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1957A>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2449A>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.550A>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.353A>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.982A>T
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp255Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum

2-71302748-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302748
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302748
    reference: chr 2
allele count: 3
allele frequency: 2.484430899695243e-5
allele num: 120752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2466G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.203G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*48G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.644G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.370G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.643G>C
  hgvsp: ENSP00000411846.3:p.Gly215Arg
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.199G>C
  hgvsp: ENSP00000404531.3:p.Gly67Arg
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.199G>C
  hgvsp: ENSP00000436326.1:p.Gly67Arg
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.717G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*819G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1940G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1392G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.781G>C
  hgvsp: ENSP00000389087.2:p.Gly261Arg
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.490G>C
  hgvsp: ENSP00000396070.3:p.Gly164Arg
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3868G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.643G>C
  hgvsp: ENSP00000244204.5:p.Gly215Arg
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.999G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.567G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.317+8G>C
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly261Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-71302749-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302749
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302749
    reference: chr 2
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.204G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.200G>A
  hgvsp: ENSP00000404531.3:p.Gly67Glu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*49G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.491G>A
  hgvsp: ENSP00000396070.3:p.Gly164Glu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.371G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.200G>A
  hgvsp: ENSP00000436326.1:p.Gly67Glu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*820G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.1000G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.782G>A
  hgvsp: ENSP00000389087.2:p.Gly261Glu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.645G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.644G>A
  hgvsp: ENSP00000244204.5:p.Gly215Glu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.317+9G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.568G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.644G>A
  hgvsp: ENSP00000411846.3:p.Gly215Glu
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2467G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1393G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.718G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1939G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3869G>A
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly261Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

2-71302752-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302752
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302752
    reference: chr 2
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2470T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.571T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.203T>A
  hgvsp: ENSP00000436326.1:p.Phe68Tyr
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.785T>A
  hgvsp: ENSP00000389087.2:p.Phe262Tyr
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3872T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.647T>A
  hgvsp: ENSP00000411846.3:p.Phe216Tyr
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.721T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.374T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.494T>A
  hgvsp: ENSP00000396070.3:p.Phe165Tyr
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*52T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1396T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.203T>A
  hgvsp: ENSP00000404531.3:p.Phe68Tyr
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.647T>A
  hgvsp: ENSP00000244204.5:p.Phe216Tyr
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*823T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1936T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.1003T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.207T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.648T>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.317+12T>A
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe262Tyr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

2-71302757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302757
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302757
    reference: chr 2
allele count: 6
allele frequency: 4.975536943361804e-5
allele num: 120590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*828C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.317+17C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.212C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.208C>T
  hgvsp: ENSP00000436326.1:p.Arg70Trp
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.652C>T
  hgvsp: ENSP00000244204.5:p.Arg218Trp
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.790C>T
  hgvsp: ENSP00000389087.2:p.Arg264Trp
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1401C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.499C>T
  hgvsp: ENSP00000396070.3:p.Arg167Trp
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3877C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.1008C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2475C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.653C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.379C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*57C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.652C>T
  hgvsp: ENSP00000411846.3:p.Arg218Trp
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.208C>T
  hgvsp: ENSP00000404531.3:p.Arg70Trp
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1931C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.576C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.726C>T
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg264Trp
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-71302758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302758
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302758
    reference: chr 2
allele count: 4
allele frequency: 3.3178500331785e-5
allele num: 120560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.653G>A
  hgvsp: ENSP00000411846.3:p.Arg218Gln
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.209G>A
  hgvsp: ENSP00000436326.1:p.Arg70Gln
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.1009G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.380G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3878G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.653G>A
  hgvsp: ENSP00000244204.5:p.Arg218Gln
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.654G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*58G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.209G>A
  hgvsp: ENSP00000404531.3:p.Arg70Gln
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.577G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.791G>A
  hgvsp: ENSP00000389087.2:p.Arg264Gln
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1402G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.213G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.727G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.317+18G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.500G>A
  hgvsp: ENSP00000396070.3:p.Arg167Gln
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*829G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1930G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2476G>A
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg264Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

2-71302758-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302758
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302758
    reference: chr 2
allele count: 1
allele frequency: 8.29462508294625e-6
allele num: 120560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.654G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*58G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.1009G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.577G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*829G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3878G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.791G>C
  hgvsp: ENSP00000389087.2:p.Arg264Pro
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.209G>C
  hgvsp: ENSP00000436326.1:p.Arg70Pro
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.653G>C
  hgvsp: ENSP00000411846.3:p.Arg218Pro
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.500G>C
  hgvsp: ENSP00000396070.3:p.Arg167Pro
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1402G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.380G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2476G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.209G>C
  hgvsp: ENSP00000404531.3:p.Arg70Pro
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.653G>C
  hgvsp: ENSP00000244204.5:p.Arg218Pro
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.317+18G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.727G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.213G>C
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1930G>C
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg264Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

2-71302759-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302759
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302759
    reference: chr 2
allele count: 201
allele frequency: 1.66893619847886e-3
allele num: 120436
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.1010G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.578G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.210G>A
  hgvsp: ENST00000531934.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.654G>A
  hgvsp: ENST00000244204.6:c.654G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*59G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.654G>A
  hgvsp: ENST00000443938.2:c.654G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2477G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.655G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*830G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.501G>A
  hgvsp: ENST00000418807.3:c.501G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.214G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.210G>A
  hgvsp: ENST00000443872.2:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.317+19G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1403G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.792G>A
  hgvsp: ENST00000455662.2:c.792G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000464638
  gene symbol: NAGK
  hgvsc: ENST00000464638.1:n.728G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.381G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3879G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1929G>A
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 3.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
hgvs: p.Arg264Arg
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

2-71302762-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302762
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302762
    reference: chr 2
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1926A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.657A>G
  hgvsp: ENST00000244204.6:c.657A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.581A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.658A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.1013A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3882A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1406A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.795A>G
  hgvsp: ENST00000455662.2:c.795A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.217A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.213A>G
  hgvsp: ENST00000531934.1:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.213A>G
  hgvsp: ENST00000443872.2:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.504A>G
  hgvsp: ENST00000418807.3:c.504A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2480A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.657A>G
  hgvsp: ENST00000443938.2:c.657A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*62A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*833A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.317+22A>G
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.384A>G
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys265Lys
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-71302772-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302772
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302772
    reference: chr 2
allele count: 2
allele frequency: 1.671122994652406e-5
allele num: 119680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.514G>A
  hgvsp: ENSP00000396070.3:p.Gly172Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.223G>A
  hgvsp: ENSP00000436326.1:p.Gly75Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.317+32G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.805G>A
  hgvsp: ENSP00000389087.2:p.Gly269Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.668G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.667G>A
  hgvsp: ENSP00000244204.5:p.Gly223Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.394G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*843G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.223G>A
  hgvsp: ENSP00000404531.3:p.Gly75Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.667G>A
  hgvsp: ENSP00000411846.3:p.Gly223Ser
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*72G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1916G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2490G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.1023G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3892G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.591G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1416G>A
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.227G>A
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly269Ser
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-71302773-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302773
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302773
    reference: chr 2
allele count: 1
allele frequency: 8.356173541012099e-6
allele num: 119672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.667+1G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1417G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.805+1G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.223+1G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.669G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.317+33G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.667+1G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*72+1G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2490+1G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.223+1G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.591+1G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.1024G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.227+1G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*843+1G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.395G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.514+1G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1915G>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3892+1G>T
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.805+1G>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-71302776-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302776
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302776
    reference: chr 2
allele count: 4
allele frequency: 3.348120867163305e-5
allele num: 119470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.667+4C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.667+4C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.227+4C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.514+4C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1420C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2490+4C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3892+4C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.223+4C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*72+4C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.1027C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.223+4C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.591+4C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000478659
  gene symbol: NAGK
  hgvsc: ENST00000478659.1:n.672C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.805+4C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.317+36C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.398C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*843+4C>T
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1912C>T
  variant of: http://identifiers.org/hgnc/17174
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.805+4C>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-71302783-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71302783
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71302784
    reference: chr 2
allele count: 1
allele frequency: 8.430423713095819e-6
allele num: 118618
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000411846
  ensembl transcript: ENST00000443938
  gene symbol: NAGK
  hgvsc: ENST00000443938.2:c.667+17dupG
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000244204
  ensembl transcript: ENST00000244204
  gene symbol: NAGK
  hgvsc: ENST00000244204.6:c.667+17dupG
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000400941
  ensembl transcript: ENST00000450272
  gene symbol: NAGK
  hgvsc: ENST00000450272.1:c.*843+17dupG
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000396070
  ensembl transcript: ENST00000418807
  gene symbol: NAGK
  hgvsc: ENST00000418807.3:c.514+17dupG
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000493102
  gene symbol: NAGK
  hgvsc: ENST00000493102.1:n.411dupG
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000435437
  ensembl transcript: ENST00000524736
  gene symbol: NAGK
  hgvsc: ENST00000524736.1:c.*72+17dupG
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000436326
  ensembl transcript: ENST00000531934
  gene symbol: NAGK
  hgvsc: ENST00000531934.1:c.223+17dupG
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000404531
  ensembl transcript: ENST00000443872
  gene symbol: NAGK
  hgvsc: ENST00000443872.2:c.223+17dupG
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000468601
  gene symbol: NAGK
  hgvsc: ENST00000468601.1:n.227+17dupG
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000490998
  gene symbol: NAGK
  hgvsc: ENST00000490998.1:n.1040dupG
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000472519
  gene symbol: NAGK
  hgvsc: ENST00000472519.1:n.1433dupG
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000475709
  gene symbol: NAGK
  hgvsc: ENST00000475709.1:n.2490+17dupG
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000389087
  ensembl transcript: ENST00000455662
  gene symbol: NAGK
  hgvsc: ENST00000455662.2:c.805+17dupG
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000431204
  ensembl transcript: ENST00000529236
  gene symbol: NAGK
  hgvsc: ENST00000529236.1:c.317+49dupG
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000479854
  gene symbol: NAGK
  hgvsc: ENST00000479854.1:n.591+17dupG
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl protein: ENSP00000437192
  ensembl transcript: ENST00000524537
  gene symbol: NAGK
  hgvsc: ENST00000524537.1:c.59-1899dupG
  variant of: http://identifiers.org/hgnc/17174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124357
  ensembl transcript: ENST00000489309
  gene symbol: NAGK
  hgvsc: ENST00000489309.1:n.3892+17dupG
  variant of: http://identifiers.org/hgnc/17174
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

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

GenotypeDepth
all individuals: 4915
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1649
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3438
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2252
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12362
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2253
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4086
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4980
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4011
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2308
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4691
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2823
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4513
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1683
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1043
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53576
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1018
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.99e1

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-1

DP
type: SiteQuality
SIO_000300: 4.535428e6

VQSLOD
type: SiteQuality
SIO_000300: -2.903e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

QD
type: SiteQuality
SIO_000300: 1.427e1

GenotypeDepth
all individuals: 3479
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4915
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 574
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1648
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4980
bin: 7.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 4513
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2308
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12361
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2363
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2824
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3438
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4011
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4691
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53576
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 668
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.537e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.855e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.192e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

DP
type: SiteQuality
SIO_000300: 4.535301e6

GenotypeDepth
all individuals: 4524
bin: 8.25e1
variant carriers: 11

GenotypeDepth
all individuals: 2245
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2823
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1632
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4702
bin: 6.75e1
variant carriers: 12

GenotypeDepth
all individuals: 2227
bin: 3.25e1
variant carriers: 1

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

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

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

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

GenotypeDepth
all individuals: 4986
bin: 7.25e1
variant carriers: 7

GenotypeDepth
all individuals: 3434
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 2360
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 4925
bin: 7.75e1
variant carriers: 11

GenotypeDepth
all individuals: 570
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3489
bin: 9.25e1
variant carriers: 12

GenotypeDepth
all individuals: 4015
bin: 6.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53634
bin: 9.75e1
variant carriers: 304

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 644
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1660
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1066
bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 7
allele frequency: 7.709251101321586e-3
allele num: 908
num of homozygotes: 1

Latino
type: Population
allele count: 20
allele frequency: 1.727414061150458e-3
allele num: 11578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 70
allele frequency: 4.239341085271318e-3
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 205
allele frequency: 3.071805322464637e-3
allele num: 66736
num of homozygotes: 1

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

MQ
type: SiteQuality
SIO_000300: 5.722e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

QD
type: SiteQuality
SIO_000300: 1.822e1

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

MQRankSum
type: SiteQuality
SIO_000300: -1.442e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

DP
type: SiteQuality
SIO_000300: 4.534005e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

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

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

GenotypeDepth
all individuals: 4690
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4085
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4979
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4008
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3432
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2226
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3477
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12147
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4513
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2293
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1631
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4914
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2357
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 979
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1066
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53330
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66328
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.96e0

VQSLOD
type: SiteQuality
SIO_000300: -4.857e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.719e1

DP
type: SiteQuality
SIO_000300: 4.493917e6

MQRankSum
type: SiteQuality
SIO_000300: -1.034e0

FS
type: SiteQuality
SIO_000300: 3.184e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

GenotypeDepth
all individuals: 4094
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3433
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4986
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4522
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 2226
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4923
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2822
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4700
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4012
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12315
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 2293
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2245
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53546
bin: 9.75e1
variant carriers: 5

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

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

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1035
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500990217847926e-5
allele num: 66652
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
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DP
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MQ
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MQRankSum
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ReadPosRankSum
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FS
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QD
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ClippingRankSum
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VQSLOD
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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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South Asian
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European (Non-Finnish)
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FS
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MQ
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ReadPosRankSum
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QD
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DP
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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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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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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Other
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East Asian
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InbreedingCoeff
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VQSLOD
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MQ
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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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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East Asian
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European (Non-Finnish)
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Other
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Latino
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South Asian
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African
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FS
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BaseQRankSum
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QD
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DP
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MQ
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InbreedingCoeff
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MQRankSum
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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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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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DP
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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DP
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQ
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FS
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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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African
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East Asian
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South Asian
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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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BaseQRankSum
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DP
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MQRankSum
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MQ
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ClippingRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

African
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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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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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allele num: 66722
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African
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Other
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European (Finnish)
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InbreedingCoeff
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MQ
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ClippingRankSum
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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Latino
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InbreedingCoeff
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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African
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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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DP
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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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Other
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
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DP
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MQRankSum
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VQSLOD
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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European (Finnish)
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African
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East Asian
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South Asian
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QD
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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East Asian
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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FS
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DP
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InbreedingCoeff
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Non-Finnish)
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East Asian
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African
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ClippingRankSum
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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DP
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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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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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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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DP
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FS
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VQSLOD
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MQ
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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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Latino
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European (Finnish)
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African
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FS
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MQ
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VQSLOD
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QD
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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East Asian
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European (Non-Finnish)
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South Asian
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European (Finnish)
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MQ
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ClippingRankSum
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QD
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VQSLOD
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MQRankSum
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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East Asian
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South Asian
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ClippingRankSum
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InbreedingCoeff
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DP
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MQRankSum
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MQ
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VQSLOD
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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QD
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MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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QD
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InbreedingCoeff
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DP
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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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South Asian
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African
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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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VQSLOD
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ReadPosRankSum
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FS
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MQ
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MQRankSum
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QD
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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Latino
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allele num: 11400
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African
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South Asian
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Other
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East Asian
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MQ
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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QD
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DP
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65298
num of homozygotes: 0

South Asian
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Other
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Latino
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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

FS
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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QD
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MQ
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MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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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 (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele num: 11412
num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 0.0e0
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MQ
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SIO_000300: 5.957e1

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

GenotypeDepth
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variant carriers: 0

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

East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65564
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Other
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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South Asian
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African
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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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: 6

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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 num: 11444
num of homozygotes: 0

South Asian
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allele frequency: 5.492447884159281e-3
allele num: 16022
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European (Finnish)
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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East Asian
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Other
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MQ
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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DP
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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FS
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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East Asian
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Latino
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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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ClippingRankSum
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DP
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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VQSLOD
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FS
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BaseQRankSum
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SIO_000300: -2.2e-2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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DP
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MQRankSum
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QD
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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SIO_000300: 5.893e1

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
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European (Finnish)
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European (Non-Finnish)
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Other
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Latino
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African
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East Asian
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South Asian
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InbreedingCoeff
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FS
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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Latino
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African
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East Asian
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European (Finnish)
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South Asian
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FS
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MQ
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MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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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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allele count: 40
allele frequency: 6.036642419486282e-4
allele num: 66262
num of homozygotes: 0

African
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European (Finnish)
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East Asian
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Other
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South Asian
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allele frequency: 1.8536826495304e-4
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Latino
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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BaseQRankSum
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MQ
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ClippingRankSum
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QD
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66288
num of homozygotes: 0

African
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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VQSLOD
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MQ
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InbreedingCoeff
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FS
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DP
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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SIO_000300: -7.15e-1

QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
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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: 1.507977199384745e-5
allele num: 66314
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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

ReadPosRankSum
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SIO_000300: 1.09e0

VQSLOD
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QD
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MQRankSum
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DP
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

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
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 1.507749834147518e-5
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num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

DP
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QD
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MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 0.0e0

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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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.153088850603002e-5
allele num: 16252
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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African
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Other
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ReadPosRankSum
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SIO_000300: 1.02e0

VQSLOD
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DP
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FS
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.932e1

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
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South Asian
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African
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Other
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East Asian
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allele num: 8648
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Latino
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num of homozygotes: 0

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

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European (Finnish)
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African
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South Asian
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Other
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East Asian
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InbreedingCoeff
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ReadPosRankSum
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QD
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DP
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FS
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VQSLOD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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FS
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InbreedingCoeff
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DP
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ReadPosRankSum
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 3.006524157421605e-5
allele num: 66522
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Latino
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South Asian
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East Asian
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Other
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European (Finnish)
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African
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VQSLOD
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BaseQRankSum
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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South Asian
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East Asian
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African
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European (Non-Finnish)
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Other
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QD
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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East Asian
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European (Non-Finnish)
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Latino
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FS
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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DP
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InbreedingCoeff
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FS
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
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Latino
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African
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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ClippingRankSum
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QD
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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FS
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ReadPosRankSum
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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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East Asian
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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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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FS
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QD
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DP
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MQ
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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Other
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European (Non-Finnish)
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African
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East Asian
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South Asian
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MQ
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ReadPosRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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FS
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VQSLOD
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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Latino
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East Asian
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allele num: 906
num of homozygotes: 0

VQSLOD
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SIO_000300: 3.93e0

DP
type: SiteQuality
SIO_000300: 1.821242e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.49e-2

QD
type: SiteQuality
SIO_000300: 1.161e1

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.157e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 6.161429451632779e-5
allele num: 16230
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66242
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.389999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.23e0

QD
type: SiteQuality
SIO_000300: 1.202e1

DP
type: SiteQuality
SIO_000300: 1.812437e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1964
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1395
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.237623762376238e-4
allele num: 16160
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.213e-1

DP
type: SiteQuality
SIO_000300: 1.793249e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.366e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.94e-1

QD
type: SiteQuality
SIO_000300: 1.313e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3
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GenotypeQuality
all individuals: 1965
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GenotypeQuality
all individuals: 1951
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 720
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variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.52151421094273e-5
allele num: 65724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.795e1

FS
type: SiteQuality
SIO_000300: 5.992e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.439e1

MQRankSum
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SIO_000300: 9.31e-1

DP
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VQSLOD
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SIO_000300: -1.369e0

ClippingRankSum
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SIO_000300: 5.7e-2

ReadPosRankSum
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SIO_000300: 3.61e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 2108
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.479543763947434e-4
allele num: 16132
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.35e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
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SIO_000300: -2.0e-4

FS
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SIO_000300: 7.182e0

ClippingRankSum
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QD
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MQRankSum
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DP
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SIO_000300: 1.788136e6

ReadPosRankSum
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BaseQRankSum
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