14-61451532-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61451532
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61451532
    reference: chr 14
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.253+11A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.295+11A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.241+11A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.156+11A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*393+11A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.310+11A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.310+11A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.156+11A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554304
  gene symbol: SLC38A6
  hgvsc: ENST00000554304.1:n.355+11A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.310+11A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000532148
  gene symbol: SLC38A6
  hgvsc: ENST00000532148.1:n.351+11A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.148+11A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*393+11A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000525585
  gene symbol: SLC38A6
  hgvsc: ENST00000525585.1:n.169+11A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.40+11A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*397+11A>G
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

14-61451536-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61451536
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61451536
    reference: chr 14
allele count: 5
allele frequency: 4.129501156260323e-5
allele num: 121080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000525585
  gene symbol: SLC38A6
  hgvsc: ENST00000525585.1:n.169+15T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.310+15T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.310+15T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*393+15T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554304
  gene symbol: SLC38A6
  hgvsc: ENST00000554304.1:n.355+15T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*397+15T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.40+15T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.310+15T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.148+15T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.295+15T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.241+15T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.156+15T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.253+15T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000532148
  gene symbol: SLC38A6
  hgvsc: ENST00000532148.1:n.351+15T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*393+15T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.156+15T>G
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

14-61451543-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61451543
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61451543
    reference: chr 14
allele count: 4
allele frequency: 3.305074942574323e-5
allele num: 121026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.40+22C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.310+22C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.148+22C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000532148
  gene symbol: SLC38A6
  hgvsc: ENST00000532148.1:n.351+22C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.241+22C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.156+22C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.253+22C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554304
  gene symbol: SLC38A6
  hgvsc: ENST00000554304.1:n.355+22C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*393+22C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000525585
  gene symbol: SLC38A6
  hgvsc: ENST00000525585.1:n.169+22C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*397+22C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*393+22C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.310+22C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.156+22C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.295+22C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.310+22C>T
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

14-61451547-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61451547
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61451547
    reference: chr 14
allele count: 43
allele frequency: 3.55366027007818e-4
allele num: 121002
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.253+26A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*397+26A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.156+26A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*393+26A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.310+26A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.148+26A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*393+26A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.156+26A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.241+26A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554304
  gene symbol: SLC38A6
  hgvsc: ENST00000554304.1:n.355+26A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000532148
  gene symbol: SLC38A6
  hgvsc: ENST00000532148.1:n.351+26A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.310+26A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.310+26A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000525585
  gene symbol: SLC38A6
  hgvsc: ENST00000525585.1:n.169+26A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.40+26A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.295+26A>G
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9592
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10729
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

14-61451550-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61451550
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61451550
    reference: chr 14
allele count: 276
allele frequency: 2.281481971332683e-3
allele num: 120974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.241+29T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.310+29T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.148+29T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*393+29T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.310+29T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000532148
  gene symbol: SLC38A6
  hgvsc: ENST00000532148.1:n.351+29T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.156+29T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.310+29T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554304
  gene symbol: SLC38A6
  hgvsc: ENST00000554304.1:n.355+29T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*393+29T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.253+29T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*397+29T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.40+29T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000525585
  gene symbol: SLC38A6
  hgvsc: ENST00000525585.1:n.169+29T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.156+29T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.295+29T>G
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8629
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9573
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10690
  bin: 3.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
num of homozygotes: 2
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

14-61451554-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61451554
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61451554
    reference: chr 14
allele count: 2
allele frequency: 1.653821982601793e-5
allele num: 120932
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.241+33A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.156+33A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*393+33A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.40+33A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000532148
  gene symbol: SLC38A6
  hgvsc: ENST00000532148.1:n.351+33A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.148+33A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.295+33A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.253+33A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.310+33A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.156+33A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554304
  gene symbol: SLC38A6
  hgvsc: ENST00000554304.1:n.355+33A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.310+33A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.310+33A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000525585
  gene symbol: SLC38A6
  hgvsc: ENST00000525585.1:n.169+33A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*397+33A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*393+33A>G
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/14-61451555-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61451555
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61451555
    reference: chr 14
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*393+34A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.241+34A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000532148
  gene symbol: SLC38A6
  hgvsc: ENST00000532148.1:n.351+34A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*397+34A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.156+34A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000525585
  gene symbol: SLC38A6
  hgvsc: ENST00000525585.1:n.169+34A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.310+34A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.148+34A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.253+34A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.310+34A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.295+34A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554304
  gene symbol: SLC38A6
  hgvsc: ENST00000554304.1:n.355+34A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*393+34A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.156+34A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.40+34A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.310+34A>C
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7961
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

14-61451556-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61451556
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61451556
    reference: chr 14
allele count: 2
allele frequency: 1.653958750268768e-5
allele num: 120922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554304
  gene symbol: SLC38A6
  hgvsc: ENST00000554304.1:n.355+35A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.310+35A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000525585
  gene symbol: SLC38A6
  hgvsc: ENST00000525585.1:n.169+35A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000532148
  gene symbol: SLC38A6
  hgvsc: ENST00000532148.1:n.351+35A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.156+35A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.310+35A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.241+35A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.253+35A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.310+35A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*393+35A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.156+35A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*393+35A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.148+35A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*397+35A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.295+35A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.40+35A>T
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

14-61451557-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61451557
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61451557
    reference: chr 14
allele count: 236
allele frequency: 1.952187939449086e-3
allele num: 120890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000532148
  gene symbol: SLC38A6
  hgvsc: ENST00000532148.1:n.351+36G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*397+36G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554304
  gene symbol: SLC38A6
  hgvsc: ENST00000554304.1:n.355+36G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.148+36G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*393+36G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.241+36G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.156+36G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.310+36G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.310+36G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.253+36G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.295+36G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.310+36G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*393+36G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000525585
  gene symbol: SLC38A6
  hgvsc: ENST00000525585.1:n.169+36G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.40+36G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.156+36G>A
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 5.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8176
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 5.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 10499
  bin: 3.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
num of homozygotes: 2
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

14-61451571-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61451571
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61451571
    reference: chr 14
allele count: 1
allele frequency: 8.290086714307032e-6
allele num: 120626
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.156+50T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.310+50T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000532148
  gene symbol: SLC38A6
  hgvsc: ENST00000532148.1:n.351+50T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*393+50T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*393+50T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000525585
  gene symbol: SLC38A6
  hgvsc: ENST00000525585.1:n.169+50T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.310+50T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.310+50T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.241+50T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.253+50T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.295+50T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554304
  gene symbol: SLC38A6
  hgvsc: ENST00000554304.1:n.355+50T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.40+50T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*397+50T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.156+50T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.148+50T>C
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

14-61451573-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61451573
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61451573
    reference: chr 14
allele count: 1
allele frequency: 8.294900295298451e-6
allele num: 120556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.310+52G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.148+52G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.253+52G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000525585
  gene symbol: SLC38A6
  hgvsc: ENST00000525585.1:n.169+52G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.40+52G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.241+52G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.295+52G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.310+52G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*393+52G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000532148
  gene symbol: SLC38A6
  hgvsc: ENST00000532148.1:n.351+52G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554304
  gene symbol: SLC38A6
  hgvsc: ENST00000554304.1:n.355+52G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.156+52G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*397+52G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*393+52G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.310+52G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.156+52G>T
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

14-61453732-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61453732
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61453732
    reference: chr 14
allele count: 3
allele frequency: 8.955223880597015e-4
allele num: 3350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000532148
  gene symbol: SLC38A6
  hgvsc: ENST00000532148.1:n.351+2211T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.156+2211T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*394-38T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.310+2211T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*394-38T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.295+2211T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.148+2211T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000525585
  gene symbol: SLC38A6
  hgvsc: ENST00000525585.1:n.170-38T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.311-38T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.157-38T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*397+2211T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554304
  gene symbol: SLC38A6
  hgvsc: ENST00000554304.1:n.355+2211T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.241+2211T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.40+2211T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.254-38T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.310+2211T>G
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

14-61453737-CTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61453737
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61453734
    reference: chr 14
allele count: 73
allele frequency: 2.050561797752809e-2
allele num: 3560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.310+2221_310+2223delCTT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.157-28_157-26delCTT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*394-28_*394-26delCTT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*394-28_*394-26delCTT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*397+2221_*397+2223delCTT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.295+2221_295+2223delCTT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000525585
  gene symbol: SLC38A6
  hgvsc: ENST00000525585.1:n.170-28_170-26delCTT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.311-28_311-26delCTT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554304
  gene symbol: SLC38A6
  hgvsc: ENST00000554304.1:n.355+2221_355+2223delCTT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.156+2221_156+2223delCTT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.241+2221_241+2223delCTT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.148+2221_148+2223delCTT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.254-28_254-26delCTT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.310+2221_310+2223delCTT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000532148
  gene symbol: SLC38A6
  hgvsc: ENST00000532148.1:n.351+2221_351+2223delCTT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.40+2221_40+2223delCTT
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: CTCT
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

14-61453739-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61453739
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61453740
    reference: chr 14
allele count: 8407
allele frequency: 7.923656927426955e-1
allele num: 10610
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*394-29dupT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000532148
  gene symbol: SLC38A6
  hgvsc: ENST00000532148.1:n.351+2220dupT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*397+2220dupT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.310+2220dupT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.156+2220dupT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.241+2220dupT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.254-29dupT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554304
  gene symbol: SLC38A6
  hgvsc: ENST00000554304.1:n.355+2220dupT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*394-29dupT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.157-29dupT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.148+2220dupT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.311-29dupT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.295+2220dupT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000525585
  gene symbol: SLC38A6
  hgvsc: ENST00000525585.1:n.170-29dupT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.40+2220dupT
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.310+2220dupT
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 2.75e1
  variant carriers: 1220
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 2.25e1
  variant carriers: 928
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.25e1
  variant carriers: 1067
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 261
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.75e1
  variant carriers: 662
genotype quality: GenotypeQuality
num of homozygotes: 3382
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

14-61453739-C-CTTTCTTTTTTCTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61453739
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61453753
    reference: chr 14
allele count: 2
allele frequency: 1.885014137606032e-4
allele num: 10610
alternate allele: CTTTCTTTTTTCTTT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000532148
  gene symbol: SLC38A6
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000525585
  gene symbol: SLC38A6
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554304
  gene symbol: SLC38A6
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-61453773-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61453773
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61453773
    reference: chr 14
allele count: 1
allele frequency: 9.373828271466067e-5
allele num: 10668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000532148
  gene symbol: SLC38A6
  hgvsc: ENST00000532148.1:n.351+2252A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.310+2252A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.295+2252A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.257A>C
  hgvsp: ENSP00000451434.1:p.Tyr86Ser
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.310+2252A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.156+2252A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.160A>C
  hgvsp: ENSP00000452125.1:p.Tyr54Ser
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.314A>C
  hgvsp: ENSP00000431212.2:p.Tyr105Ser
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*397A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*397+2252A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554304
  gene symbol: SLC38A6
  hgvsc: ENST00000554304.1:n.355+2252A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*397A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.148+2252A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.40+2252A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000525585
  gene symbol: SLC38A6
  hgvsc: ENST00000525585.1:n.173A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.241+2252A>C
  variant of: http://identifiers.org/hgnc/19863
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Tyr86Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

14-61453784-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61453784
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61453784
    reference: chr 14
allele count: 1
allele frequency: 9.365049634763064e-5
allele num: 10678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000525585
  gene symbol: SLC38A6
  hgvsc: ENST00000525585.1:n.184T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.310+2263T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.295+2263T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000532148
  gene symbol: SLC38A6
  hgvsc: ENST00000532148.1:n.351+2263T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.325T>C
  hgvsp: ENSP00000431212.2:p.Ter109ArgextTer11
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.171T>C
  hgvsp: ENSP00000452125.1:p.Ter58ArgextTer11
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*397+2263T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.268T>C
  hgvsp: ENSP00000451434.1:p.Ter90ArgextTer11
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*408T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.156+2263T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554304
  gene symbol: SLC38A6
  hgvsc: ENST00000554304.1:n.355+2263T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.148+2263T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.310+2263T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.241+2263T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*408T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.40+2263T>C
  variant of: http://identifiers.org/hgnc/19863
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter90ArgextTer11
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

14-61453833-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61453833
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61453833
    reference: chr 14
allele count: 1
allele frequency: 9.417969485778867e-5
allele num: 10618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*457C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.295+2312C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*457C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*47C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.310+2312C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.310+2312C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*397+2312C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.241+2312C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000525585
  gene symbol: SLC38A6
  hgvsc: ENST00000525585.1:n.233C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.156+2312C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000532148
  gene symbol: SLC38A6
  hgvsc: ENST00000532148.1:n.351+2312C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*47C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*47C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.148+2312C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.40+2312C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554304
  gene symbol: SLC38A6
  hgvsc: ENST00000554304.1:n.355+2312C>T
  variant of: http://identifiers.org/hgnc/19863
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-61482571-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482571
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482571
    reference: chr 14
allele count: 1
allele frequency: 8.41779184484326e-6
allele num: 118796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.311-51G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14592G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.41-51G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*90-51G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*90-51G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*398-51G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.149-51G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.242-51G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*90-51G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*500-51G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.296-51G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.311-51G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*500-51G>A
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

14-61482576-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482576
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482576
    reference: chr 14
allele count: 2
allele frequency: 1.682255568265931e-5
allele num: 118888
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*90-46A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*500-46A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.242-46A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.311-46A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.311-46A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.41-46A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.149-46A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*90-46A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.296-46A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14587A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*500-46A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*398-46A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*90-46A>G
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-61482576-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482576
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482576
    reference: chr 14
allele count: 1
allele frequency: 8.411277841329655e-6
allele num: 118888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.311-46A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.242-46A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14587A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*90-46A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*90-46A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*500-46A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*500-46A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*398-46A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*90-46A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.311-46A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.149-46A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.296-46A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.41-46A>T
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

14-61482586-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482586
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482586
    reference: chr 14
allele count: 1
allele frequency: 8.40279645065878e-6
allele num: 119008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*500-36T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*90-36T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.149-36T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.311-36T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*90-36T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*90-36T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.242-36T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.296-36T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.41-36T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.311-36T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*398-36T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14577T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*500-36T>C
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

14-61482587-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482587
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482587
    reference: chr 14
allele count: 1
allele frequency: 8.403643819960336e-6
allele num: 118996
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*90-35T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*500-35T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.311-35T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14576T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*90-35T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*90-35T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.149-35T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.242-35T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.311-35T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.41-35T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.296-35T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*398-35T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*500-35T>G
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

14-61482588-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482588
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482588
    reference: chr 14
allele count: 3
allele frequency: 2.520838935197634e-5
allele num: 119008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.242-34G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.149-34G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.41-34G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.311-34G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.311-34G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*398-34G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*90-34G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*500-34G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.296-34G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*90-34G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14575G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*90-34G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*500-34G>T
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

14-61482590-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482590
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482590
    reference: chr 14
allele count: 1
allele frequency: 8.398562166157153e-6
allele num: 119068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*500-32G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14573G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*500-32G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.149-32G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.41-32G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*90-32G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.311-32G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.311-32G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.296-32G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.242-32G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*90-32G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*90-32G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*398-32G>A
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8677
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

14-61482598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482598
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482598
    reference: chr 14
allele count: 1
allele frequency: 8.378016085790886e-6
allele num: 119360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.41-24G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.311-24G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*500-24G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.311-24G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*398-24G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.242-24G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*500-24G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*90-24G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*90-24G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.149-24G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.296-24G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*90-24G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14565G>A
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

14-61482603-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482603
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482603
    reference: chr 14
allele count: 1
allele frequency: 8.355196096452384e-6
allele num: 119686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.242-19T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.311-19T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14560T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.41-19T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*90-19T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.296-19T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*90-19T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*398-19T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.149-19T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*500-19T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*90-19T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.311-19T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*500-19T>C
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6864
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8715
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

14-61482630-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482630
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482630
    reference: chr 14
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*508T>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.319T>A
  hgvsp: ENSP00000267488.4:p.Ser107Thr
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.250T>A
  hgvsp: ENSP00000413863.2:p.Ser84Thr
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*508T>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*98T>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*406T>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14533T>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.304T>A
  hgvsp: ENSP00000395851.1:p.Ser102Thr
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.49T>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*98T>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.157T>A
  hgvsp: ENSP00000451244.1:p.Ser53Thr
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*98T>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.319T>A
  hgvsp: ENSP00000346959.2:p.Ser107Thr
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8764
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser107Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-61482632-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482632
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482632
    reference: chr 14
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.159T>A
  hgvsp: ENST00000526105.1:c.159T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*100T>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*408T>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*100T>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.252T>A
  hgvsp: ENST00000456840.2:c.252T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.306T>A
  hgvsp: ENST00000451406.1:c.306T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.321T>A
  hgvsp: ENST00000354886.2:c.321T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*100T>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*510T>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14531T>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.51T>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*510T>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.321T>A
  hgvsp: ENST00000267488.4:c.321T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser107Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-61482634-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482634
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482634
    reference: chr 14
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*102A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.323A>C
  hgvsp: ENSP00000346959.2:p.Tyr108Ser
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.53A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*512A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*102A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.323A>C
  hgvsp: ENSP00000267488.4:p.Tyr108Ser
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*512A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*102A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.254A>C
  hgvsp: ENSP00000413863.2:p.Tyr85Ser
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.308A>C
  hgvsp: ENSP00000395851.1:p.Tyr103Ser
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*410A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.161A>C
  hgvsp: ENSP00000451244.1:p.Tyr54Ser
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14529A>C
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr108Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

14-61482634-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482634
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482634
    reference: chr 14
allele count: 60
allele frequency: 4.968121222157821e-4
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*410A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.53A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.308A>T
  hgvsp: ENSP00000395851.1:p.Tyr103Phe
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*102A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*102A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*102A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.323A>T
  hgvsp: ENSP00000267488.4:p.Tyr108Phe
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.323A>T
  hgvsp: ENSP00000346959.2:p.Tyr108Phe
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*512A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.161A>T
  hgvsp: ENSP00000451244.1:p.Tyr54Phe
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*512A>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.254A>T
  hgvsp: ENSP00000413863.2:p.Tyr85Phe
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14529A>T
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 9.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Tyr108Phe
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

14-61482635-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482635
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482635
    reference: chr 14
allele count: 3
allele frequency: 2.483896073788273e-5
allele num: 120778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.54T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*411T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*103T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.324T>C
  hgvsp: ENST00000267488.4:c.324T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.255T>C
  hgvsp: ENST00000456840.2:c.255T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*513T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*103T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14528T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.309T>C
  hgvsp: ENST00000451406.1:c.309T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.324T>C
  hgvsp: ENST00000354886.2:c.324T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*513T>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.162T>C
  hgvsp: ENST00000526105.1:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*103T>C
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr108Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

14-61482642-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482642
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482642
    reference: chr 14
allele count: 1
allele frequency: 8.276501357346223e-6
allele num: 120824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*418C>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*110C>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*110C>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.169C>G
  hgvsp: ENSP00000451244.1:p.Leu57Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.61C>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*110C>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14521C>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*520C>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.316C>G
  hgvsp: ENSP00000395851.1:p.Leu106Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.262C>G
  hgvsp: ENSP00000413863.2:p.Leu88Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.331C>G
  hgvsp: ENSP00000346959.2:p.Leu111Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.331C>G
  hgvsp: ENSP00000267488.4:p.Leu111Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*520C>G
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu111Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

14-61482648-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482648
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482648
    reference: chr 14
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.175C>G
  hgvsp: ENSP00000451244.1:p.Leu59Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.322C>G
  hgvsp: ENSP00000395851.1:p.Leu108Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*526C>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14515C>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*116C>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*424C>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.67C>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*116C>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.268C>G
  hgvsp: ENSP00000413863.2:p.Leu90Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.337C>G
  hgvsp: ENSP00000267488.4:p.Leu113Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.337C>G
  hgvsp: ENSP00000346959.2:p.Leu113Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*116C>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*526C>G
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu113Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

14-61482650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482650
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482650
    reference: chr 14
allele count: 72
allele frequency: 5.958785069932964e-4
allele num: 120830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.177C>T
  hgvsp: ENST00000526105.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.324C>T
  hgvsp: ENST00000451406.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*528C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.339C>T
  hgvsp: ENST00000267488.4:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14513C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*118C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*426C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.339C>T
  hgvsp: ENST00000354886.2:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.69C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*118C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.270C>T
  hgvsp: ENST00000456840.2:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*118C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*528C>T
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7942
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
hgvs: p.Leu113Leu
num of homozygotes: 2
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

14-61482654-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482654
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482654
    reference: chr 14
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*122G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.181G>A
  hgvsp: ENSP00000451244.1:p.Ala61Thr
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.343G>A
  hgvsp: ENSP00000346959.2:p.Ala115Thr
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.343G>A
  hgvsp: ENSP00000267488.4:p.Ala115Thr
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*532G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.274G>A
  hgvsp: ENSP00000413863.2:p.Ala92Thr
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*430G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*122G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*532G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.328G>A
  hgvsp: ENSP00000395851.1:p.Ala110Thr
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.73G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14509G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*122G>A
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala115Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-61482656-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482656
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482656
    reference: chr 14
allele count: 37
allele frequency: 3.062406886277106e-4
allele num: 120820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*124A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*534A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14507A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*534A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*124A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.345A>C
  hgvsp: ENST00000354886.2:c.345A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.330A>C
  hgvsp: ENST00000451406.1:c.330A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.183A>C
  hgvsp: ENST00000526105.1:c.183A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*432A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.276A>C
  hgvsp: ENST00000456840.2:c.276A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*124A>C
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.345A>C
  hgvsp: ENST00000267488.4:c.345A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.75A>C
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8261
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ala115Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

14-61482661-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482661
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482661
    reference: chr 14
allele count: 2
allele frequency: 1.656287266463495e-5
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*539G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.350G>A
  hgvsp: ENSP00000267488.4:p.Gly117Glu
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.188G>A
  hgvsp: ENSP00000451244.1:p.Gly63Glu
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*129G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.281G>A
  hgvsp: ENSP00000413863.2:p.Gly94Glu
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.335G>A
  hgvsp: ENSP00000395851.1:p.Gly112Glu
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*129G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*539G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*437G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*129G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.350G>A
  hgvsp: ENSP00000346959.2:p.Gly117Glu
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.80G>A
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14502G>A
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly117Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD

14-61482661-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482661
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482661
    reference: chr 14
allele count: 2
allele frequency: 1.656287266463495e-5
allele num: 120752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.281G>T
  hgvsp: ENSP00000413863.2:p.Gly94Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*539G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.188G>T
  hgvsp: ENSP00000451244.1:p.Gly63Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*129G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.350G>T
  hgvsp: ENSP00000267488.4:p.Gly117Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*129G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*129G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.335G>T
  hgvsp: ENSP00000395851.1:p.Gly112Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*539G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.80G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14502G>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.350G>T
  hgvsp: ENSP00000346959.2:p.Gly117Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*437G>T
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly117Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

14-61482662-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482662
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482662
    reference: chr 14
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.189A>G
  hgvsp: ENST00000526105.1:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*130A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.81A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.282A>G
  hgvsp: ENST00000456840.2:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.351A>G
  hgvsp: ENST00000354886.2:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*438A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*540A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.336A>G
  hgvsp: ENST00000451406.1:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.351A>G
  hgvsp: ENST00000267488.4:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*130A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14501A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*540A>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*130A>G
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly117Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

14-61482663-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482663
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482663
    reference: chr 14
allele count: 6
allele frequency: 4.969684921975947e-5
allele num: 120732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.190T>G
  hgvsp: ENSP00000451244.1:p.Leu64Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*131T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.352T>G
  hgvsp: ENSP00000267488.4:p.Leu118Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.337T>G
  hgvsp: ENSP00000395851.1:p.Leu113Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.352T>G
  hgvsp: ENSP00000346959.2:p.Leu118Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.82T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*131T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*439T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.283T>G
  hgvsp: ENSP00000413863.2:p.Leu95Val
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*131T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*541T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*541T>G
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14500T>G
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu118Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

12-14976628-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14976628
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14976628
    reference: chr 12
allele count: 2
allele frequency: 1.900093104562124e-5
allele num: 105258
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182993
  ensembl protein: ENSP00000331691
  ensembl transcript: ENST00000330828
  gene symbol: C12orf60
  hgvsc: ENST00000330828.2:c.*21T>C
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+19943T>C
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+19943T>C
  variant of: http://identifiers.org/hgnc/28726
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10551
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-14976637-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14976637
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14976636
    reference: chr 12
allele count: 1
allele frequency: 9.618714170289716e-6
allele num: 103964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+19956delA
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182993
  ensembl protein: ENSP00000331691
  ensembl transcript: ENST00000330828
  gene symbol: C12orf60
  hgvsc: ENST00000330828.2:c.*34delA
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+19956delA
  variant of: http://identifiers.org/hgnc/28726
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4765
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: GA
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-14976648-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14976648
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14976648
    reference: chr 12
allele count: 1
allele frequency: 9.762574195563886e-6
allele num: 102432
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+19963A>G
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182993
  ensembl protein: ENSP00000331691
  ensembl transcript: ENST00000330828
  gene symbol: C12orf60
  hgvsc: ENST00000330828.2:c.*41A>G
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+19963A>G
  variant of: http://identifiers.org/hgnc/28726
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6405
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4768
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4867
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5668
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7514
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-14976657-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14976657
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14976657
    reference: chr 12
allele count: 9
allele frequency: 9.021832835461818e-5
allele num: 99758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+19972T>C
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+19972T>C
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182993
  ensembl protein: ENSP00000331691
  ensembl transcript: ENST00000330828
  gene symbol: C12orf60
  hgvsc: ENST00000330828.2:c.*50T>C
  variant of: http://identifiers.org/hgnc/28726
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12934
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12098
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8334
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4296
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5937
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5701
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6915
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-14982261-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982261
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982261
    reference: chr 12
allele count: 1
allele frequency: 1.43139331825599e-5
allele num: 69862
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.*44A>C
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25576T>G
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25576T>G
  variant of: http://identifiers.org/hgnc/28726
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10214
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3929
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 10087
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

12-14982271-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982271
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982272
    reference: chr 12
allele count: 15
allele frequency: 2.054907118198258e-4
allele num: 72996
alternate allele: AT
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.*33dupA
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25594dupT
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25594dupT
  variant of: http://identifiers.org/hgnc/28726
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17892
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16619
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16125
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

12-14982271-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982271
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982271
    reference: chr 12
allele count: 1
allele frequency: 1.369938078798838e-5
allele num: 72996
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.*34T>C
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25586A>G
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25586A>G
  variant of: http://identifiers.org/hgnc/28726
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5385
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-14982271-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982271
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982270
    reference: chr 12
allele count: 14
allele frequency: 1.917913310318374e-4
allele num: 72996
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.*33delA
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25594delT
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25594delT
  variant of: http://identifiers.org/hgnc/28726
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17892
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5385
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16125
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17825
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: AT
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-14982273-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982273
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982273
    reference: chr 12
allele count: 1
allele frequency: 1.306199221505264e-5
allele num: 76558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25588T>A
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.*32A>T
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25588T>A
  variant of: http://identifiers.org/hgnc/28726
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19633
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16539
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4339
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

14-61482667-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61482667
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 61482667
    reference: chr 14
allele count: 2
allele frequency: 1.657687525901368e-5
allele num: 120650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451434
  ensembl transcript: ENST00000524402
  gene symbol: SLC38A6
  hgvsc: ENST00000524402.2:c.*135C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000451244
  ensembl transcript: ENST00000526105
  gene symbol: SLC38A6
  hgvsc: ENST00000526105.1:c.194C>T
  hgvsp: ENSP00000451244.1:p.Pro65Leu
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431212
  ensembl transcript: ENST00000491344
  gene symbol: SLC38A6
  hgvsc: ENST00000491344.3:c.*135C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000395851
  ensembl transcript: ENST00000451406
  gene symbol: SLC38A6
  hgvsc: ENST00000451406.1:c.341C>T
  hgvsp: ENSP00000395851.1:p.Pro114Leu
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000452125
  ensembl transcript: ENST00000528350
  gene symbol: SLC38A6
  hgvsc: ENST00000528350.1:c.*135C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434543
  ensembl transcript: ENST00000533744
  gene symbol: SLC38A6
  hgvsc: ENST00000533744.2:c.157-14496C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000431260
  ensembl transcript: ENST00000525723
  gene symbol: SLC38A6
  hgvsc: ENST00000525723.2:c.*545C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000267488
  ensembl transcript: ENST00000267488
  gene symbol: SLC38A6
  hgvsc: ENST00000267488.4:c.356C>T
  hgvsp: ENSP00000267488.4:p.Pro119Leu
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000435833
  ensembl transcript: ENST00000529345
  gene symbol: SLC38A6
  hgvsc: ENST00000529345.2:c.*443C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000346959
  ensembl transcript: ENST00000354886
  gene symbol: SLC38A6
  hgvsc: ENST00000354886.2:c.356C>T
  hgvsp: ENSP00000346959.2:p.Pro119Leu
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000413863
  ensembl transcript: ENST00000456840
  gene symbol: SLC38A6
  hgvsc: ENST00000456840.2:c.287C>T
  hgvsp: ENSP00000413863.2:p.Pro96Leu
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139974
  ensembl protein: ENSP00000434737
  ensembl transcript: ENST00000527591
  gene symbol: SLC38A6
  hgvsc: ENST00000527591.1:c.*545C>T
  variant of: http://identifiers.org/hgnc/19863
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139974
  ensembl transcript: ENST00000554072
  gene symbol: SLC38A6
  hgvsc: ENST00000554072.1:n.86C>T
  variant of: http://identifiers.org/hgnc/19863
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro119Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

12-14982279-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982279
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982279
    reference: chr 12
allele count: 1
allele frequency: 1.101491419381843e-5
allele num: 90786
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.*26A>T
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25594T>A
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25594T>A
  variant of: http://identifiers.org/hgnc/28726
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6417
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-14982292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982292
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982292
    reference: chr 12
allele count: 1
allele frequency: 8.631255502425382e-6
allele num: 115858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25607C>T
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000442877
  ensembl transcript: ENST00000544616
  gene symbol: ART4
  hgvsc: ENST00000544616.1:c.*72G>A
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25607C>T
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000412735
  ensembl transcript: ENST00000430129
  gene symbol: ART4
  hgvsc: ENST00000430129.2:c.*72G>A
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.*13G>A
  variant of: http://identifiers.org/hgnc/726
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8457
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4601
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43833
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-14982296-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982296
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982296
    reference: chr 12
allele count: 3
allele frequency: 2.547727427134996e-5
allele num: 117752
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.*9T>C
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000412735
  ensembl transcript: ENST00000430129
  gene symbol: ART4
  hgvsc: ENST00000430129.2:c.*68T>C
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000442877
  ensembl transcript: ENST00000544616
  gene symbol: ART4
  hgvsc: ENST00000544616.1:c.*68T>C
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25611A>G
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25611A>G
  variant of: http://identifiers.org/hgnc/28726
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8712
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4715
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-14982297-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982297
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982297
    reference: chr 12
allele count: 1
allele frequency: 8.476012883539584e-6
allele num: 117980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000412735
  ensembl transcript: ENST00000430129
  gene symbol: ART4
  hgvsc: ENST00000430129.2:c.*67T>C
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25612A>G
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000442877
  ensembl transcript: ENST00000544616
  gene symbol: ART4
  hgvsc: ENST00000544616.1:c.*67T>C
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25612A>G
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.*8T>C
  variant of: http://identifiers.org/hgnc/726
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45038
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS

12-14982300-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982300
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982300
    reference: chr 12
allele count: 1
allele frequency: 8.430565859580495e-6
allele num: 118616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000412735
  ensembl transcript: ENST00000430129
  gene symbol: ART4
  hgvsc: ENST00000430129.2:c.*64A>G
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25615T>C
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.*5A>G
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25615T>C
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000442877
  ensembl transcript: ENST00000544616
  gene symbol: ART4
  hgvsc: ENST00000544616.1:c.*64A>G
  variant of: http://identifiers.org/hgnc/726
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3697
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45412
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

12-14982306-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982306
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982306
    reference: chr 12
allele count: 1
allele frequency: 8.377454594196099e-6
allele num: 119368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25621T>C
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000442877
  ensembl transcript: ENST00000544616
  gene symbol: ART4
  hgvsc: ENST00000544616.1:c.*58A>G
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25621T>C
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: true
  consequence: stop_retained_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.944A>G
  hgvsp: ENST00000228936.4:c.944A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000412735
  ensembl transcript: ENST00000430129
  gene symbol: ART4
  hgvsc: ENST00000430129.2:c.*58A>G
  variant of: http://identifiers.org/hgnc/726
canonical: true
consequence: stop retained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45778
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ter315Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

12-14982307-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982307
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982307
    reference: chr 12
allele count: 1
allele frequency: 8.368060785593547e-6
allele num: 119502
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25622A>G
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000442877
  ensembl transcript: ENST00000544616
  gene symbol: ART4
  hgvsc: ENST00000544616.1:c.*57T>C
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25622A>G
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000412735
  ensembl transcript: ENST00000430129
  gene symbol: ART4
  hgvsc: ENST00000430129.2:c.*57T>C
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.943T>C
  hgvsp: ENSP00000228936.4:p.Ter315GlnextTer9
  variant of: http://identifiers.org/hgnc/726
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ter315GlnextTer9
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-14982310-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982310
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982310
    reference: chr 12
allele count: 2
allele frequency: 1.669421211665915e-5
allele num: 119802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25625C>T
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000442877
  ensembl transcript: ENST00000544616
  gene symbol: ART4
  hgvsc: ENST00000544616.1:c.*54G>A
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.940G>A
  hgvsp: ENSP00000228936.4:p.Val314Ile
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25625C>T
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000412735
  ensembl transcript: ENST00000430129
  gene symbol: ART4
  hgvsc: ENST00000430129.2:c.*54G>A
  variant of: http://identifiers.org/hgnc/726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3708
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val314Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-14982319-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982319
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982319
    reference: chr 12
allele count: 2
allele frequency: 1.662538030557449e-5
allele num: 120298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000412735
  ensembl transcript: ENST00000430129
  gene symbol: ART4
  hgvsc: ENST00000430129.2:c.*45A>G
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000442877
  ensembl transcript: ENST00000544616
  gene symbol: ART4
  hgvsc: ENST00000544616.1:c.*45A>G
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25634T>C
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.931A>G
  hgvsp: ENSP00000228936.4:p.Lys311Glu
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25634T>C
  variant of: http://identifiers.org/hgnc/28726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4835
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys311Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/12-14982323-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982323
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982323
    reference: chr 12
allele count: 1
allele frequency: 8.301924386072691e-6
allele num: 120454
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000442877
  ensembl transcript: ENST00000544616
  gene symbol: ART4
  hgvsc: ENST00000544616.1:c.*41T>G
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25638A>C
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000412735
  ensembl transcript: ENST00000430129
  gene symbol: ART4
  hgvsc: ENST00000430129.2:c.*41T>G
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25638A>C
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.927T>G
  hgvsp: ENSP00000228936.4:p.Phe309Leu
  variant of: http://identifiers.org/hgnc/726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46309
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe309Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-14982336-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982336
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982336
    reference: chr 12
allele count: 2
allele frequency: 1.656616526406467e-5
allele num: 120728
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.914G>A
  hgvsp: ENSP00000228936.4:p.Ser305Asn
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000412735
  ensembl transcript: ENST00000430129
  gene symbol: ART4
  hgvsc: ENST00000430129.2:c.*28G>A
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25651C>T
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000442877
  ensembl transcript: ENST00000544616
  gene symbol: ART4
  hgvsc: ENST00000544616.1:c.*28G>A
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25651C>T
  variant of: http://identifiers.org/hgnc/28726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser305Asn
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

12-14982342-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982342
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982342
    reference: chr 12
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25657A>G
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.908T>C
  hgvsp: ENSP00000228936.4:p.Leu303Ser
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000412735
  ensembl transcript: ENST00000430129
  gene symbol: ART4
  hgvsc: ENST00000430129.2:c.*22T>C
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000442877
  ensembl transcript: ENST00000544616
  gene symbol: ART4
  hgvsc: ENST00000544616.1:c.*22T>C
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25657A>G
  variant of: http://identifiers.org/hgnc/28726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu303Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-14982352-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982352
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982352
    reference: chr 12
allele count: 14885
allele frequency: 1.231529131434812e-1
allele num: 120866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25667G>C
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25667G>C
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000412735
  ensembl transcript: ENST00000430129
  gene symbol: ART4
  hgvsc: ENST00000430129.2:c.*12C>G
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.898C>G
  hgvsp: ENSP00000228936.4:p.Leu300Val
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000442877
  ensembl transcript: ENST00000544616
  gene symbol: ART4
  hgvsc: ENST00000544616.1:c.*12C>G
  variant of: http://identifiers.org/hgnc/726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.25e1
  variant carriers: 332
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.25e1
  variant carriers: 461
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 8.25e1
  variant carriers: 746
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 3.75e1
  variant carriers: 448
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 6.75e1
  variant carriers: 1119
genotype depth: GenotypeDepth
  all individuals: 33206
  bin: 2.25e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 2.75e1
  variant carriers: 208
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 5.75e1
  variant carriers: 1086
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 801
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 6.25e1
  variant carriers: 1161
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 4.25e1
  variant carriers: 628
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 5.25e1
  variant carriers: 947
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 1061
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 9.75e1
  variant carriers: 2755
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.75e1
  variant carriers: 946
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.75e1
  variant carriers: 590
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 3175
  bin: 6.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 9.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16335
  bin: 9.75e1
  variant carriers: 13354
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 6
hgvs: p.Leu300Val
num of homozygotes: 1385
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-14982354-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982354
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982354
    reference: chr 12
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25669G>C
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000442877
  ensembl transcript: ENST00000544616
  gene symbol: ART4
  hgvsc: ENST00000544616.1:c.*10C>G
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25669G>C
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.896C>G
  hgvsp: ENSP00000228936.4:p.Ser299Cys
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000412735
  ensembl transcript: ENST00000430129
  gene symbol: ART4
  hgvsc: ENST00000430129.2:c.*10C>G
  variant of: http://identifiers.org/hgnc/726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4277
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser299Cys
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-14982357-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982357
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982357
    reference: chr 12
allele count: 1
allele frequency: 8.285827919925758e-6
allele num: 120688
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.893C>T
  hgvsp: ENSP00000228936.4:p.Ala298Val
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000412735
  ensembl transcript: ENST00000430129
  gene symbol: ART4
  hgvsc: ENST00000430129.2:c.*7C>T
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25672G>A
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000442877
  ensembl transcript: ENST00000544616
  gene symbol: ART4
  hgvsc: ENST00000544616.1:c.*7C>T
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25672G>A
  variant of: http://identifiers.org/hgnc/28726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46762
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4277
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala298Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

12-14982362-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982362
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982362
    reference: chr 12
allele count: 1
allele frequency: 8.292561572269675e-6
allele num: 120590
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.888T>A
  hgvsp: ENST00000228936.4:c.888T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000412735
  ensembl transcript: ENST00000430129
  gene symbol: ART4
  hgvsc: ENST00000430129.2:c.*2T>A
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000442877
  ensembl transcript: ENST00000544616
  gene symbol: ART4
  hgvsc: ENST00000544616.1:c.*2T>A
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25677A>T
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25677A>T
  variant of: http://identifiers.org/hgnc/28726
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4277
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala296Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-14982363-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982363
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982363
    reference: chr 12
allele count: 4
allele frequency: 3.317299718029524e-5
allele num: 120580
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000228936
  ensembl transcript: ENST00000228936
  gene symbol: ART4
  hgvsc: ENST00000228936.4:c.887C>T
  hgvsp: ENSP00000228936.4:p.Ala296Val
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000412735
  ensembl transcript: ENST00000430129
  gene symbol: ART4
  hgvsc: ENST00000430129.2:c.*1C>T
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000533472
  gene symbol: C12orf60
  hgvsc: ENST00000533472.1:n.86+25678G>A
  variant of: http://identifiers.org/hgnc/28726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111339
  ensembl protein: ENSP00000442877
  ensembl transcript: ENST00000544616
  gene symbol: ART4
  hgvsc: ENST00000544616.1:c.*1C>T
  variant of: http://identifiers.org/hgnc/726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182993
  ensembl transcript: ENST00000527783
  gene symbol: C12orf60
  hgvsc: ENST00000527783.1:n.75+25678G>A
  variant of: http://identifiers.org/hgnc/28726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Ala296Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-14982364-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14982364
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 14982364
    reference: chr 12
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: T
canonical: true
consequence: missense
filter: PASS
hgvs: p.Ala296Thr
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 139
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1004
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5759
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10767
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9611
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 419
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 651
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 526
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7970
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4791
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4487
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27143
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2526
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10370
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4150
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.246e0

QD
type: SiteQuality
SIO_000300: 1.62e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.76e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.36e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 2.782831e6

GenotypeDepth
all individuals: 3519
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 652
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 10769
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9610
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7970
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8817
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 526
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2273
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2524
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27143
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 4349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4789
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10242
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4486
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.032508491023775e-4
allele num: 16488
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e0

FS
type: SiteQuality
SIO_000300: 6.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.95e-1

DP
type: SiteQuality
SIO_000300: 2.781781e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

QD
type: SiteQuality
SIO_000300: 1.548e1

GenotypeDepth
all individuals: 167
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9605
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5758
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2272
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 419
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 652
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 357
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1421
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3519
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2407
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4480
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27138
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4755
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10020
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.509921828021648e-5
allele num: 66520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

FS
type: SiteQuality
SIO_000300: 1.317e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.316e0

DP
type: SiteQuality
SIO_000300: 2.779025e6

MQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

QD
type: SiteQuality
SIO_000300: 1.445e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

GenotypeDepth
all individuals: 420
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 263
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 530
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8709
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 527
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2276
bin: 5.75e1
variant carriers: 5

GenotypeDepth
all individuals: 3523
bin: 9.75e1
variant carriers: 8

GenotypeDepth
all individuals: 358
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1420
bin: 6.25e1
variant carriers: 4

GenotypeDepth
all individuals: 3744
bin: 5.25e1
variant carriers: 4

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

GenotypeQuality
all individuals: 4469
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 400
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27147
bin: 9.75e1
variant carriers: 43

GenotypeQuality
all individuals: 4343
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9856
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2517
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4150
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4746
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.597852441981296e-4
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.937608990505716e-4
allele num: 10322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 5.563742443836276e-4
allele num: 66502
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.94e0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 2.77765e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.538e1

GenotypeDepth
all individuals: 389
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1024
bin: 6.75e1
variant carriers: 32

GenotypeDepth
all individuals: 189
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2281
bin: 5.75e1
variant carriers: 27

GenotypeDepth
all individuals: 2531
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1429
bin: 6.25e1
variant carriers: 25

GenotypeDepth
all individuals: 424
bin: 8.25e1
variant carriers: 9

GenotypeDepth
all individuals: 3735
bin: 5.25e1
variant carriers: 17

GenotypeDepth
all individuals: 361
bin: 9.25e1
variant carriers: 5

GenotypeDepth
all individuals: 5757
bin: 4.75e1
variant carriers: 31

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 17

GenotypeQuality
all individuals: 4455
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27200
bin: 9.75e1
variant carriers: 274

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 56
allele frequency: 8.477141992128368e-3
allele num: 6606
num of homozygotes: 0

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

Latino
type: Population
allele count: 13
allele frequency: 1.125931058375195e-3
allele num: 11546
num of homozygotes: 0

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

African
type: Population
allele count: 7
allele frequency: 6.781631466770006e-4
allele num: 10322
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.820167455405897e-4
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 196
allele frequency: 2.948166420986132e-3
allele num: 66482
num of homozygotes: 2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.76e0

DP
type: SiteQuality
SIO_000300: 2.777788e6

QD
type: SiteQuality
SIO_000300: 1.639e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2509
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00960062599693e-5
allele num: 66454
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: 906
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.93e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.682e1

ReadPosRankSum
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SIO_000300: -1.904e0

BaseQRankSum
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SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 1.663e0

DP
type: SiteQuality
SIO_000300: 2.767182e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.579e0

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

GenotypeQuality
all individuals: 2404
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.577e-1

QD
type: SiteQuality
SIO_000300: 1.772e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.47e-1

FS
type: SiteQuality
SIO_000300: 1.961e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.01e-1

DP
type: SiteQuality
SIO_000300: 2.766096e6

GenotypeDepth
all individuals: 7960
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 377
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variant carriers: 0

GenotypeDepth
all individuals: 1409
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variant carriers: 0

GenotypeDepth
all individuals: 206
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GenotypeDepth
all individuals: 2266
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GenotypeDepth
all individuals: 358
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 10602
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GenotypeQuality
all individuals: 34
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GenotypeQuality
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GenotypeQuality
all individuals: 2404
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variant carriers: 0

GenotypeQuality
all individuals: 267
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GenotypeQuality
all individuals: 352
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 14
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GenotypeQuality
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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: 4662
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variant carriers: 0

GenotypeQuality
all individuals: 27050
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 2
allele frequency: 1.213297743266198e-4
allele num: 16484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.325e-1

QD
type: SiteQuality
SIO_000300: 1.684e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.043e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.304e0

DP
type: SiteQuality
SIO_000300: 2.764338e6

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

GenotypeDepth
all individuals: 7959
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GenotypeDepth
all individuals: 3518
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variant carriers: 19

GenotypeDepth
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variant carriers: 5

GenotypeDepth
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GenotypeDepth
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variant carriers: 19

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 6

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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variant carriers: 233

GenotypeQuality
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GenotypeQuality
all individuals: 546
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GenotypeQuality
all individuals: 229
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variant carriers: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.854368932038835e-4
allele num: 16480
num of homozygotes: 0

East Asian
type: Population
allele count: 203
allele frequency: 2.353896103896104e-2
allele num: 8624
num of homozygotes: 2

African
type: Population
allele count: 7
allele frequency: 6.788207913110939e-4
allele num: 10312
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.029385034837928e-4
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.956888246628131e-4
allele num: 66432
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.483e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

DP
type: SiteQuality
SIO_000300: 2.761276e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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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: 4324
bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66268
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

MQRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.733e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.959e0

MQ
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SIO_000300: 5.909e1

QD
type: SiteQuality
SIO_000300: 1.768e1

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 6.215040397762585e-5
allele num: 16090
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Other
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MQ
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VQSLOD
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MQRankSum
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DP
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

East Asian
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allele count: 56
allele frequency: 6.472491909385114e-3
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

South Asian
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allele frequency: 2.486016159105034e-4
allele num: 16090
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 frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
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ClippingRankSum
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QD
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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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DP
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InbreedingCoeff
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SIO_000300: -1.0e-4

GenotypeDepth
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GenotypeDepth
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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 count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

South Asian
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num of homozygotes: 0

African
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allele count: 0
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Other
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ReadPosRankSum
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MQRankSum
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MQ
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FS
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DP
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
type: Population
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 66566
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MQRankSum
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MQ
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FS
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DP
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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SIO_000300: 4.39e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 5

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: 65

South Asian
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allele frequency: 4.215224398710637e-3
allele num: 16132
num of homozygotes: 2

East Asian
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.009073701288946e-5
allele num: 66566
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

African
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allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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: 0.0e0
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num of homozygotes: 0

Other
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3
allele frequency: 1.860349745752202e-4
allele num: 16126
num of homozygotes: 0

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

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

Latino
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allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.957783720441093e-4
allele num: 66562
num of homozygotes: 0

DP
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ClippingRankSum
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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BaseQRankSum
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SIO_000300: 1.83e0

GenotypeDepth
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GenotypeDepth
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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: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.005168890491646e-5
allele num: 66552
num of homozygotes: 0

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

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

Latino
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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QD
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DP
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MQ
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FS
type: SiteQuality
SIO_000300: 3.197e0

VQSLOD
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SIO_000300: 1.12e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.005168890491646e-5
allele num: 66552
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.230012300123001e-4
allele num: 8130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58866
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.979e0

FS
type: SiteQuality
SIO_000300: 6.163e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

VQSLOD
type: SiteQuality
SIO_000300: -6.23e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

QD
type: SiteQuality
SIO_000300: 1.434e1

DP
type: SiteQuality
SIO_000300: 1.304995e6

GenotypeQuality
all individuals: 2681
bin: 9.75e1
variant carriers: 8

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.751252145283878e-5
allele num: 57102
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.192748091603053e-4
allele num: 8384
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 8.559550012227928e-4
allele num: 8178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.723e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.642e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

FS
type: SiteQuality
SIO_000300: 1.1674e1

QD
type: SiteQuality
SIO_000300: 9.99e0

DP
type: SiteQuality
SIO_000300: 1.246605e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

GenotypeQuality
all individuals: 411
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.666382252559727e-5
allele num: 37504
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.86e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

DP
type: SiteQuality
SIO_000300: 8.98881e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

MQRankSum
type: SiteQuality
SIO_000300: -1.853e0

VQSLOD
type: SiteQuality
SIO_000300: -2.619e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.408e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3385
bin: 9.75e1
variant carriers: 14

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.089576547231271e-5
allele num: 39296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3156
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 1.23543946346629e-3
allele num: 5666
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.577287066246057e-4
allele num: 12680
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 6.784260515603799e-4
allele num: 2948
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-2

DP
type: SiteQuality
SIO_000300: 1.071275e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 1.326e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.36e-2

GenotypeQuality
all individuals: 574
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3156
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.886435331230284e-5
allele num: 12680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39296
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.326e0

DP
type: SiteQuality
SIO_000300: 1.071275e6

QD
type: SiteQuality
SIO_000300: 5.65e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.36e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

GenotypeQuality
all individuals: 407
bin: 8.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2948
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.764913519237557e-4
allele num: 5666
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 6.938020351526364e-4
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.781351791530945e-4
allele num: 39296
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.071275e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

FS
type: SiteQuality
SIO_000300: 1.326e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.36e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-2

QD
type: SiteQuality
SIO_000300: 5.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
all individuals: 816
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12988
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.112347052280312e-4
allele num: 8990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.546e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

MQ
type: SiteQuality
SIO_000300: 5.829e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.101632e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

GenotypeDepth
all individuals: 1791
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5601
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1238
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4076
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7046
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 382
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2441
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26708
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 12620
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3778
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
all individuals: 534
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variant carriers: 0

GenotypeQuality
all individuals: 4991
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variant carriers: 0

GenotypeQuality
all individuals: 3557
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variant carriers: 0

GenotypeQuality
all individuals: 2002
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variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006162633398467e-5
allele num: 66530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.014e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: -6.002e-1

DP
type: SiteQuality
SIO_000300: 2.66345e6

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.33e-1

GenotypeQuality
all individuals: 3231
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.121492664862555e-5
allele num: 14042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5340
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.239997e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.697e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.256e0

QD
type: SiteQuality
SIO_000300: 1.22e1

MQ
type: SiteQuality
SIO_000300: 6.083e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 777
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variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577386585904473e-5
allele num: 63396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8264
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.459451e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.5e-1

FS
type: SiteQuality
SIO_000300: 2.993e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 7.78e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3696
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 7.75e1
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GenotypeQuality
all individuals: 788
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.035840066293764e-4
allele num: 9654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.094250881861501e-5
allele num: 64636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.332e0

DP
type: SiteQuality
SIO_000300: 1.475433e6

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.55e-1

QD
type: SiteQuality
SIO_000300: 1.034e1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.002e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1430
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64780
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.132711885195633e-5
allele num: 16306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.57e-1

QD
type: SiteQuality
SIO_000300: 1.289e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

DP
type: SiteQuality
SIO_000300: 1.477529e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1098
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variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 4742
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534071733194244e-5
allele num: 65186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 8.970000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.347e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-2

DP
type: SiteQuality
SIO_000300: 1.483485e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3706
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65678
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.016466761536898e-4
allele num: 9838
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.915e1

VQSLOD
type: SiteQuality
SIO_000300: -4.43e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.322e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e0

DP
type: SiteQuality
SIO_000300: 1.490388e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.75e-2

GenotypeQuality
all individuals: 804
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3706
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169590643274854e-4
allele num: 8550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.125e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

DP
type: SiteQuality
SIO_000300: 1.491648e6

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: -2.717e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.51e-1

GenotypeQuality
all individuals: 727
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.031589159037167e-5
allele num: 65972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.494652e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.653e-1

QD
type: SiteQuality
SIO_000300: 6.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.47e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.582e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

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

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1244
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.002204850671477e-4
allele num: 9978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508568670045861e-5
allele num: 66288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
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: 2.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.338e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
SIO_000300: 1.499881e6

GenotypeQuality
all individuals: 813
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4843
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.968102073365231e-5
allele num: 10032
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.92e1

DP
type: SiteQuality
SIO_000300: 1.501612e6

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.12e0

QD
type: SiteQuality
SIO_000300: 1.272e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.328e0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4857
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

FS
type: SiteQuality
SIO_000300: 2.012e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.445e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 1.504326e6

QD
type: SiteQuality
SIO_000300: 1.341e1

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3737
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503985561738607e-5
allele num: 66490
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.505085e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 7.18e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.084e0

QD
type: SiteQuality
SIO_000300: 1.107e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 37499
bin: 6.25e1
variant carriers: 10

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 9

GenotypeQuality
all individuals: 783
bin: 7.25e1
variant carriers: 8

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 6

Latino
type: Population
allele count: 4142
allele frequency: 3.595486111111111e-1
allele num: 11520
num of homozygotes: 794

European (Finnish)
type: Population
allele count: 1050
allele frequency: 1.589945487583283e-1
allele num: 6604
num of homozygotes: 102

East Asian
type: Population
allele count: 750
allele frequency: 8.690614136732329e-2
allele num: 8630
num of homozygotes: 37

Other
type: Population
allele count: 99
allele frequency: 1.097560975609756e-1
allele num: 902
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 6277
allele frequency: 9.438813870259541e-2
allele num: 66502
num of homozygotes: 308

African
type: Population
allele count: 1249
allele frequency: 1.221396440445922e-1
allele num: 10226
num of homozygotes: 74

South Asian
type: Population
allele count: 1318
allele frequency: 7.996602354083242e-2
allele num: 16482
num of homozygotes: 66

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.82e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-1

DP
type: SiteQuality
SIO_000300: 2.212701e6

VQSLOD
type: SiteQuality
SIO_000300: 6.47e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.79e-1

QD
type: SiteQuality
SIO_000300: 1.297e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

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

GenotypeQuality
all individuals: 587
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
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GenotypeQuality
all individuals: 1125
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505343971097396e-5
allele num: 66430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: -2.33e0

FS
type: SiteQuality
SIO_000300: 3.442e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.613646e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.739e0

QD
type: SiteQuality
SIO_000300: 2.408e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4815
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506024096385542e-5
allele num: 66400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.086e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.023e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.83e-1

FS
type: SiteQuality
SIO_000300: 1.891e0

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

DP
type: SiteQuality
SIO_000300: 1.613137e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
all individuals: 586
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1123
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507477086348288e-5
allele num: 66336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: -5.936e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.021e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.193e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.611544e6

GenotypeQuality
all individuals: 46651
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215362177929023e-4
allele num: 16456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.015317814497648e-5
allele num: 66328
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.437e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 1.611672e6

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.105e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1