14-23282256-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282256
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282256
    reference: chr 14
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.352A>C
  hgvsp: ENSP00000380662.4:p.Ile118Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.352A>C
  hgvsp: ENSP00000451983.1:p.Ile118Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.352A>C
  hgvsp: ENSP00000421554.1:p.Ile118Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.352A>C
  hgvsp: ENSP00000380663.2:p.Ile118Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.352A>C
  hgvsp: ENSP00000380666.3:p.Ile118Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.352A>C
  hgvsp: ENSP00000450671.1:p.Ile118Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.352A>C
  hgvsp: ENSP00000450715.1:p.Ile118Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.352A>C
  hgvsp: ENSP00000285850.7:p.Ile118Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.352A>C
  hgvsp: ENSP00000451881.1:p.Ile118Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6591A>C
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile118Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

14-23282256-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282256
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282256
    reference: chr 14
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.352A>T
  hgvsp: ENSP00000380663.2:p.Ile118Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.352A>T
  hgvsp: ENSP00000380662.4:p.Ile118Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6591A>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.352A>T
  hgvsp: ENSP00000451983.1:p.Ile118Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.352A>T
  hgvsp: ENSP00000450715.1:p.Ile118Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.352A>T
  hgvsp: ENSP00000450671.1:p.Ile118Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.352A>T
  hgvsp: ENSP00000421554.1:p.Ile118Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.352A>T
  hgvsp: ENSP00000380666.3:p.Ile118Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.352A>T
  hgvsp: ENSP00000285850.7:p.Ile118Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.352A>T
  hgvsp: ENSP00000451881.1:p.Ile118Phe
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile118Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/14-23282259-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282259
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282259
    reference: chr 14
allele count: 6
allele frequency: 4.941850887885876e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.349T>G
  hgvsp: ENSP00000451983.1:p.Phe117Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.349T>G
  hgvsp: ENSP00000285850.7:p.Phe117Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.349T>G
  hgvsp: ENSP00000380663.2:p.Phe117Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.349T>G
  hgvsp: ENSP00000450671.1:p.Phe117Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.349T>G
  hgvsp: ENSP00000380662.4:p.Phe117Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.349T>G
  hgvsp: ENSP00000421554.1:p.Phe117Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.349T>G
  hgvsp: ENSP00000451881.1:p.Phe117Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.349T>G
  hgvsp: ENSP00000450715.1:p.Phe117Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.349T>G
  hgvsp: ENST00000557629.1:c.349T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.349T>G
  hgvsp: ENSP00000380666.3:p.Phe117Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6588T>G
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe117Val
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-23282262-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282262
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282262
    reference: chr 14
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.346G>T
  hgvsp: ENSP00000285850.7:p.Ala116Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6585G>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.346G>T
  hgvsp: ENSP00000380663.2:p.Ala116Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.346G>T
  hgvsp: ENSP00000380666.3:p.Ala116Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.346G>T
  hgvsp: ENSP00000451983.1:p.Ala116Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.346G>T
  hgvsp: ENSP00000451881.1:p.Ala116Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.346G>T
  hgvsp: ENSP00000380662.4:p.Ala116Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.346G>T
  hgvsp: ENSP00000421554.1:p.Ala116Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.346G>T
  hgvsp: ENSP00000450715.1:p.Ala116Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.346G>T
  hgvsp: ENSP00000450671.1:p.Ala116Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.346G>T
  hgvsp: ENSP00000450495.1:p.Ala116Ser
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala116Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

14-23282266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282266
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282266
    reference: chr 14
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.342C>T
  hgvsp: ENST00000285850.7:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.342C>T
  hgvsp: ENST00000555702.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.342C>T
  hgvsp: ENST00000555251.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.342C>T
  hgvsp: ENST00000397529.2:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.342C>T
  hgvsp: ENST00000554758.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6581C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.342C>T
  hgvsp: ENST00000556287.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.342C>T
  hgvsp: ENST00000397528.4:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.342C>T
  hgvsp: ENST00000488800.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.342C>T
  hgvsp: ENST00000397532.3:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.342C>T
  hgvsp: ENST00000555911.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.342C>T
  hgvsp: ENST00000557629.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe114Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

14-23282269-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282269
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282269
    reference: chr 14
allele count: 29
allele frequency: 2.388561262478173e-4
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.339A>C
  hgvsp: ENST00000555702.1:c.339A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.339A>C
  hgvsp: ENST00000397529.2:c.339A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.339A>C
  hgvsp: ENST00000397528.4:c.339A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.339A>C
  hgvsp: ENST00000397532.3:c.339A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.339A>C
  hgvsp: ENST00000285850.7:c.339A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.339A>C
  hgvsp: ENST00000554758.1:c.339A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.339A>C
  hgvsp: ENST00000488800.1:c.339A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.339A>C
  hgvsp: ENST00000555251.1:c.339A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.339A>C
  hgvsp: ENST00000557629.1:c.339A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6578A>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.339A>C
  hgvsp: ENST00000555911.1:c.339A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.339A>C
  hgvsp: ENST00000556287.1:c.339A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly113Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-23282275-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282275
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282275
    reference: chr 14
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.333T>G
  hgvsp: ENSP00000421554.1:p.Phe111Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.333T>G
  hgvsp: ENSP00000380662.4:p.Phe111Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.333T>G
  hgvsp: ENSP00000452551.1:p.Phe111Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.333T>G
  hgvsp: ENSP00000450671.1:p.Phe111Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.333T>G
  hgvsp: ENSP00000451983.1:p.Phe111Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.333T>G
  hgvsp: ENSP00000380666.3:p.Phe111Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.333T>G
  hgvsp: ENSP00000285850.7:p.Phe111Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.333T>G
  hgvsp: ENSP00000450495.1:p.Phe111Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.333T>G
  hgvsp: ENSP00000450715.1:p.Phe111Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6572T>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.333T>G
  hgvsp: ENSP00000380663.2:p.Phe111Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.333T>G
  hgvsp: ENSP00000451881.1:p.Phe111Leu
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe111Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/14-23282280-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282280
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282280
    reference: chr 14
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.328G>T
  hgvsp: ENSP00000451881.1:p.Ala110Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.328G>T
  hgvsp: ENSP00000450715.1:p.Ala110Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.328G>T
  hgvsp: ENSP00000451983.1:p.Ala110Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.328G>T
  hgvsp: ENSP00000450671.1:p.Ala110Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6567G>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.328G>T
  hgvsp: ENSP00000380666.3:p.Ala110Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.328G>T
  hgvsp: ENSP00000285850.7:p.Ala110Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.328G>T
  hgvsp: ENSP00000380662.4:p.Ala110Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.328G>T
  hgvsp: ENSP00000450495.1:p.Ala110Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.328G>T
  hgvsp: ENSP00000452551.1:p.Ala110Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.328G>T
  hgvsp: ENSP00000421554.1:p.Ala110Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.328G>T
  hgvsp: ENSP00000380663.2:p.Ala110Ser
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala110Ser
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-23282283-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282283
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282283
    reference: chr 14
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.325G>C
  hgvsp: ENSP00000451881.1:p.Glu109Gln
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.325G>C
  hgvsp: ENSP00000380666.3:p.Glu109Gln
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.325G>C
  hgvsp: ENSP00000380663.2:p.Glu109Gln
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.325G>C
  hgvsp: ENSP00000451983.1:p.Glu109Gln
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.325G>C
  hgvsp: ENSP00000285850.7:p.Glu109Gln
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6564G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.325G>C
  hgvsp: ENSP00000380662.4:p.Glu109Gln
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.325G>C
  hgvsp: ENSP00000452551.1:p.Glu109Gln
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.325G>C
  hgvsp: ENSP00000450671.1:p.Glu109Gln
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.325G>C
  hgvsp: ENSP00000450495.1:p.Glu109Gln
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.325G>C
  hgvsp: ENSP00000421554.1:p.Glu109Gln
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.325G>C
  hgvsp: ENSP00000450715.1:p.Glu109Gln
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu109Gln
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

14-23282290-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282290
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282290
    reference: chr 14
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.318T>C
  hgvsp: ENST00000488800.1:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.318T>C
  hgvsp: ENST00000285850.7:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.318T>C
  hgvsp: ENST00000397528.4:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.318T>C
  hgvsp: ENST00000556287.1:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.318T>C
  hgvsp: ENST00000397532.3:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.318T>C
  hgvsp: ENST00000557129.1:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.318T>C
  hgvsp: ENST00000554758.1:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.318T>C
  hgvsp: ENST00000555702.1:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.318T>C
  hgvsp: ENST00000555251.1:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.318T>C
  hgvsp: ENST00000397529.2:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6557T>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.318T>C
  hgvsp: ENST00000555911.1:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.318T>C
  hgvsp: ENST00000557629.1:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr106Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-23282295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282295
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282295
    reference: chr 14
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.313G>A
  hgvsp: ENSP00000421554.1:p.Ala105Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.313G>A
  hgvsp: ENSP00000380666.3:p.Ala105Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.313G>A
  hgvsp: ENSP00000451983.1:p.Ala105Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.313G>A
  hgvsp: ENSP00000450495.1:p.Ala105Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.313G>A
  hgvsp: ENSP00000380663.2:p.Ala105Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.313G>A
  hgvsp: ENSP00000452551.1:p.Ala105Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.313G>A
  hgvsp: ENSP00000451881.1:p.Ala105Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.313G>A
  hgvsp: ENSP00000450729.1:p.Ala105Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.313G>A
  hgvsp: ENSP00000285850.7:p.Ala105Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.313G>A
  hgvsp: ENSP00000380662.4:p.Ala105Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6552G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.313G>A
  hgvsp: ENSP00000450671.1:p.Ala105Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.313G>A
  hgvsp: ENSP00000450715.1:p.Ala105Thr
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala105Thr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

14-23282311-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282311
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282311
    reference: chr 14
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.297A>G
  hgvsp: ENST00000557629.1:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.297A>G
  hgvsp: ENST00000557129.1:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.297A>G
  hgvsp: ENST00000397532.3:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.297A>G
  hgvsp: ENST00000555911.1:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.297A>G
  hgvsp: ENST00000285850.7:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.297A>G
  hgvsp: ENST00000555251.1:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6536A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.297A>G
  hgvsp: ENST00000397529.2:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.297A>G
  hgvsp: ENST00000554758.1:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.297A>G
  hgvsp: ENST00000556287.1:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.297A>G
  hgvsp: ENST00000555702.1:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.297A>G
  hgvsp: ENST00000488800.1:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.297A>G
  hgvsp: ENST00000397528.4:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys99Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

14-23282326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282326
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282326
    reference: chr 14
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.282C>T
  hgvsp: ENST00000285850.7:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.282C>T
  hgvsp: ENST00000555251.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.282C>T
  hgvsp: ENST00000557629.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.282C>T
  hgvsp: ENST00000555911.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.282C>T
  hgvsp: ENST00000397529.2:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.282C>T
  hgvsp: ENST00000555702.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6521C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.282C>T
  hgvsp: ENST00000557129.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.282C>T
  hgvsp: ENST00000488800.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.282C>T
  hgvsp: ENST00000397532.3:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.282C>T
  hgvsp: ENST00000554758.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.282C>T
  hgvsp: ENST00000556287.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.282C>T
  hgvsp: ENST00000397528.4:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly94Gly
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

14-23282335-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282335
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282335
    reference: chr 14
allele count: 15
allele frequency: 1.235503426462836e-4
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.273G>A
  hgvsp: ENST00000555251.1:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.273G>A
  hgvsp: ENST00000285850.7:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.273G>A
  hgvsp: ENST00000554758.1:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.273G>A
  hgvsp: ENST00000556287.1:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.273G>A
  hgvsp: ENST00000557629.1:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.273G>A
  hgvsp: ENST00000557129.1:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.273G>A
  hgvsp: ENST00000555911.1:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.273G>A
  hgvsp: ENST00000397528.4:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.273G>A
  hgvsp: ENST00000397529.2:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6512G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.273G>A
  hgvsp: ENST00000397532.3:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.273G>A
  hgvsp: ENST00000555702.1:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.273G>A
  hgvsp: ENST00000488800.1:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala91Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

14-23282336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282336
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282336
    reference: chr 14
allele count: 1487
allele frequency: 1.224815906956823e-2
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.272C>T
  hgvsp: ENSP00000380666.3:p.Ala91Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.272C>T
  hgvsp: ENSP00000421554.1:p.Ala91Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.272C>T
  hgvsp: ENSP00000380663.2:p.Ala91Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.272C>T
  hgvsp: ENSP00000450495.1:p.Ala91Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.272C>T
  hgvsp: ENSP00000285850.7:p.Ala91Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.272C>T
  hgvsp: ENSP00000451983.1:p.Ala91Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.272C>T
  hgvsp: ENSP00000451881.1:p.Ala91Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.272C>T
  hgvsp: ENSP00000450729.1:p.Ala91Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.272C>T
  hgvsp: ENSP00000450671.1:p.Ala91Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6511C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.272C>T
  hgvsp: ENSP00000452551.1:p.Ala91Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.272C>T
  hgvsp: ENSP00000450715.1:p.Ala91Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.272C>T
  hgvsp: ENSP00000380662.4:p.Ala91Val
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7264
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: p.Ala91Val
num of homozygotes: 14
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

14-23282339-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282339
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282339
    reference: chr 14
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6508A>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.269A>T
  hgvsp: ENSP00000421554.1:p.Tyr90Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.269A>T
  hgvsp: ENSP00000451881.1:p.Tyr90Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.269A>T
  hgvsp: ENSP00000450715.1:p.Tyr90Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.269A>T
  hgvsp: ENSP00000380662.4:p.Tyr90Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.269A>T
  hgvsp: ENSP00000285850.7:p.Tyr90Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.269A>T
  hgvsp: ENSP00000380663.2:p.Tyr90Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.269A>T
  hgvsp: ENSP00000451983.1:p.Tyr90Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.269A>T
  hgvsp: ENSP00000380666.3:p.Tyr90Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.269A>T
  hgvsp: ENSP00000450729.1:p.Tyr90Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.269A>T
  hgvsp: ENSP00000452551.1:p.Tyr90Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.269A>T
  hgvsp: ENSP00000450671.1:p.Tyr90Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.269A>T
  hgvsp: ENSP00000450495.1:p.Tyr90Phe
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr90Phe
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

14-23282339-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282339
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282339
    reference: chr 14
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.269A>G
  hgvsp: ENSP00000450671.1:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.269A>G
  hgvsp: ENSP00000451983.1:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.269A>G
  hgvsp: ENSP00000452551.1:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.269A>G
  hgvsp: ENSP00000285850.7:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.269A>G
  hgvsp: ENSP00000380666.3:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6508A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.269A>G
  hgvsp: ENSP00000450729.1:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.269A>G
  hgvsp: ENSP00000450715.1:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.269A>G
  hgvsp: ENSP00000380663.2:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.269A>G
  hgvsp: ENSP00000380662.4:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.269A>G
  hgvsp: ENSP00000450495.1:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.269A>G
  hgvsp: ENSP00000451881.1:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.269A>G
  hgvsp: ENSP00000421554.1:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr90Cys
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-23282358-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282358
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282358
    reference: chr 14
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.250G>A
  hgvsp: ENSP00000450729.1:p.Val84Ile
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.250G>A
  hgvsp: ENSP00000285850.7:p.Val84Ile
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.250G>A
  hgvsp: ENSP00000380662.4:p.Val84Ile
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.250G>A
  hgvsp: ENSP00000380663.2:p.Val84Ile
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.250G>A
  hgvsp: ENSP00000452551.1:p.Val84Ile
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6489G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.250G>A
  hgvsp: ENSP00000450671.1:p.Val84Ile
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.250G>A
  hgvsp: ENSP00000450715.1:p.Val84Ile
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.250G>A
  hgvsp: ENSP00000451881.1:p.Val84Ile
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.250G>A
  hgvsp: ENSP00000451983.1:p.Val84Ile
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.250G>A
  hgvsp: ENSP00000380666.3:p.Val84Ile
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.250G>A
  hgvsp: ENSP00000421554.1:p.Val84Ile
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.250G>A
  hgvsp: ENSP00000450495.1:p.Val84Ile
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val84Ile
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-23282359-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282359
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282359
    reference: chr 14
allele count: 4
allele frequency: 3.294730079238259e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.249C>T
  hgvsp: ENST00000557629.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6488C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.249C>T
  hgvsp: ENST00000555251.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.249C>T
  hgvsp: ENST00000555702.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.249C>T
  hgvsp: ENST00000557129.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.249C>T
  hgvsp: ENST00000397528.4:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.249C>T
  hgvsp: ENST00000554758.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.249C>T
  hgvsp: ENST00000556287.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.249C>T
  hgvsp: ENST00000555911.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.249C>T
  hgvsp: ENST00000397532.3:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.249C>T
  hgvsp: ENST00000397529.2:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.249C>T
  hgvsp: ENST00000488800.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.249C>T
  hgvsp: ENST00000285850.7:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser83Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-23282363-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282363
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282363
    reference: chr 14
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.245T>G
  hgvsp: ENSP00000451983.1:p.Phe82Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.245T>G
  hgvsp: ENSP00000450671.1:p.Phe82Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.245T>G
  hgvsp: ENSP00000421554.1:p.Phe82Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.245T>G
  hgvsp: ENSP00000450729.1:p.Phe82Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.245T>G
  hgvsp: ENSP00000451881.1:p.Phe82Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.245T>G
  hgvsp: ENSP00000452551.1:p.Phe82Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.245T>G
  hgvsp: ENSP00000380662.4:p.Phe82Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.245T>G
  hgvsp: ENSP00000380666.3:p.Phe82Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.245T>G
  hgvsp: ENSP00000380663.2:p.Phe82Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.245T>G
  hgvsp: ENSP00000285850.7:p.Phe82Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.245T>G
  hgvsp: ENSP00000450715.1:p.Phe82Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.245T>G
  hgvsp: ENSP00000450495.1:p.Phe82Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6484T>G
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe82Cys
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

14-23282366-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282366
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282366
    reference: chr 14
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.242T>C
  hgvsp: ENSP00000380662.4:p.Leu81Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.242T>C
  hgvsp: ENSP00000380663.2:p.Leu81Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.242T>C
  hgvsp: ENSP00000450495.1:p.Leu81Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.242T>C
  hgvsp: ENSP00000452551.1:p.Leu81Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.242T>C
  hgvsp: ENSP00000450715.1:p.Leu81Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6481T>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.242T>C
  hgvsp: ENSP00000450671.1:p.Leu81Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.242T>C
  hgvsp: ENSP00000285850.7:p.Leu81Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.242T>C
  hgvsp: ENSP00000450729.1:p.Leu81Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.242T>C
  hgvsp: ENSP00000451983.1:p.Leu81Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.242T>C
  hgvsp: ENSP00000421554.1:p.Leu81Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.242T>C
  hgvsp: ENSP00000451881.1:p.Leu81Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.242T>C
  hgvsp: ENSP00000380666.3:p.Leu81Pro
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu81Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-23282367-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282367
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282367
    reference: chr 14
allele count: 6
allele frequency: 4.942176534545814e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.241C>T
  hgvsp: ENSP00000451983.1:p.Leu81Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.241C>T
  hgvsp: ENSP00000285850.7:p.Leu81Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.241C>T
  hgvsp: ENSP00000380662.4:p.Leu81Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.241C>T
  hgvsp: ENSP00000380666.3:p.Leu81Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.241C>T
  hgvsp: ENSP00000380663.2:p.Leu81Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.241C>T
  hgvsp: ENSP00000421554.1:p.Leu81Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.241C>T
  hgvsp: ENSP00000451881.1:p.Leu81Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.241C>T
  hgvsp: ENSP00000450715.1:p.Leu81Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.241C>T
  hgvsp: ENSP00000450671.1:p.Leu81Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6480C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.241C>T
  hgvsp: ENSP00000450729.1:p.Leu81Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.241C>T
  hgvsp: ENSP00000452551.1:p.Leu81Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.241C>T
  hgvsp: ENSP00000450495.1:p.Leu81Phe
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu81Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

14-23282374-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282374
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282374
    reference: chr 14
allele count: 125
allele frequency: 1.029620111363711e-3
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.234C>T
  hgvsp: ENST00000555911.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.234C>T
  hgvsp: ENST00000397529.2:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.234C>T
  hgvsp: ENST00000555251.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.234C>T
  hgvsp: ENST00000557629.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.234C>T
  hgvsp: ENST00000397528.4:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.234C>T
  hgvsp: ENST00000557129.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.234C>T
  hgvsp: ENST00000397532.3:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.234C>T
  hgvsp: ENST00000285850.7:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.234C>T
  hgvsp: ENST00000556287.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.234C>T
  hgvsp: ENST00000488800.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.234C>T
  hgvsp: ENST00000555702.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6473C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.234C>T
  hgvsp: ENST00000554758.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val78Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-23282380-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282380
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282380
    reference: chr 14
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.228G>T
  hgvsp: ENSP00000451881.1:p.Trp76Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6467G>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.228G>T
  hgvsp: ENSP00000451983.1:p.Trp76Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.228G>T
  hgvsp: ENSP00000452551.1:p.Trp76Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.228G>T
  hgvsp: ENSP00000380666.3:p.Trp76Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.228G>T
  hgvsp: ENSP00000450671.1:p.Trp76Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.228G>T
  hgvsp: ENSP00000285850.7:p.Trp76Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.228G>T
  hgvsp: ENSP00000450495.1:p.Trp76Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.228G>T
  hgvsp: ENSP00000380663.2:p.Trp76Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.228G>T
  hgvsp: ENSP00000380662.4:p.Trp76Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.228G>T
  hgvsp: ENSP00000450729.1:p.Trp76Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.228G>T
  hgvsp: ENSP00000421554.1:p.Trp76Cys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.228G>T
  hgvsp: ENSP00000450715.1:p.Trp76Cys
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp76Cys
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/14-23282388-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282388
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282388
    reference: chr 14
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.220G>T
  hgvsp: ENSP00000451983.1:p.Val74Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.220G>T
  hgvsp: ENSP00000450671.1:p.Val74Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.220G>T
  hgvsp: ENSP00000380666.3:p.Val74Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.220G>T
  hgvsp: ENSP00000450729.1:p.Val74Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.220G>T
  hgvsp: ENSP00000380663.2:p.Val74Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6459G>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.220G>T
  hgvsp: ENSP00000421554.1:p.Val74Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.220G>T
  hgvsp: ENSP00000380662.4:p.Val74Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.220G>T
  hgvsp: ENSP00000451881.1:p.Val74Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.220G>T
  hgvsp: ENSP00000285850.7:p.Val74Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.220G>T
  hgvsp: ENSP00000450715.1:p.Val74Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.220G>T
  hgvsp: ENSP00000450495.1:p.Val74Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.220G>T
  hgvsp: ENSP00000452551.1:p.Val74Phe
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val74Phe
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

14-23282394-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282394
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282394
    reference: chr 14
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6453T>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.214T>C
  hgvsp: ENSP00000450671.1:p.Ser72Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.214T>C
  hgvsp: ENSP00000451983.1:p.Ser72Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.214T>C
  hgvsp: ENSP00000451881.1:p.Ser72Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.214T>C
  hgvsp: ENSP00000450729.1:p.Ser72Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.214T>C
  hgvsp: ENSP00000452551.1:p.Ser72Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.214T>C
  hgvsp: ENSP00000380666.3:p.Ser72Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.214T>C
  hgvsp: ENSP00000450495.1:p.Ser72Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.214T>C
  hgvsp: ENSP00000380663.2:p.Ser72Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.214T>C
  hgvsp: ENSP00000380662.4:p.Ser72Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.214T>C
  hgvsp: ENSP00000421554.1:p.Ser72Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.214T>C
  hgvsp: ENSP00000285850.7:p.Ser72Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.214T>C
  hgvsp: ENSP00000450715.1:p.Ser72Pro
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser72Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

14-23282409-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282409
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282409
    reference: chr 14
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.199G>C
  hgvsp: ENSP00000451881.1:p.Ala67Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.199G>C
  hgvsp: ENSP00000452551.1:p.Ala67Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.199G>C
  hgvsp: ENSP00000380662.4:p.Ala67Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.199G>C
  hgvsp: ENSP00000380663.2:p.Ala67Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.199G>C
  hgvsp: ENSP00000380666.3:p.Ala67Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.199G>C
  hgvsp: ENSP00000450729.1:p.Ala67Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6438G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.199G>C
  hgvsp: ENSP00000451983.1:p.Ala67Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.199G>C
  hgvsp: ENSP00000450495.1:p.Ala67Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.199G>C
  hgvsp: ENSP00000285850.7:p.Ala67Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.199G>C
  hgvsp: ENSP00000421554.1:p.Ala67Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.199G>C
  hgvsp: ENSP00000450715.1:p.Ala67Pro
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.199G>C
  hgvsp: ENSP00000450671.1:p.Ala67Pro
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala67Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS

14-23282415-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282415
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282415
    reference: chr 14
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.193T>C
  hgvsp: ENSP00000450495.1:p.Tyr65His
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6432T>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.193T>C
  hgvsp: ENSP00000451881.1:p.Tyr65His
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.193T>C
  hgvsp: ENSP00000285850.7:p.Tyr65His
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.193T>C
  hgvsp: ENSP00000450729.1:p.Tyr65His
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.193T>C
  hgvsp: ENSP00000380663.2:p.Tyr65His
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.193T>C
  hgvsp: ENSP00000452551.1:p.Tyr65His
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.193T>C
  hgvsp: ENSP00000450671.1:p.Tyr65His
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.193T>C
  hgvsp: ENSP00000380666.3:p.Tyr65His
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.193T>C
  hgvsp: ENSP00000380662.4:p.Tyr65His
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.193T>C
  hgvsp: ENSP00000421554.1:p.Tyr65His
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.193T>C
  hgvsp: ENSP00000451983.1:p.Tyr65His
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.193T>C
  hgvsp: ENSP00000450715.1:p.Tyr65His
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr65His
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/14-23282447-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282447
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282447
    reference: chr 14
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6400G>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.161G>T
  hgvsp: ENSP00000421554.1:p.Gly54Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.161G>T
  hgvsp: ENSP00000450715.1:p.Gly54Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.161G>T
  hgvsp: ENSP00000285850.7:p.Gly54Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.161G>T
  hgvsp: ENSP00000450729.1:p.Gly54Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.161G>T
  hgvsp: ENSP00000380662.4:p.Gly54Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.161G>T
  hgvsp: ENSP00000380663.2:p.Gly54Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.161G>T
  hgvsp: ENSP00000450495.1:p.Gly54Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.161G>T
  hgvsp: ENSP00000451983.1:p.Gly54Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.161G>T
  hgvsp: ENSP00000451881.1:p.Gly54Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.161G>T
  hgvsp: ENSP00000450671.1:p.Gly54Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.161G>T
  hgvsp: ENSP00000452551.1:p.Gly54Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.161G>T
  hgvsp: ENSP00000380666.3:p.Gly54Val
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly54Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

14-23282449-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282449
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282449
    reference: chr 14
allele count: 73581
allele frequency: 6.073043908880819e-1
allele num: 121160
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.159G>A
  hgvsp: ENST00000488800.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.159G>A
  hgvsp: ENST00000556287.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.159G>A
  hgvsp: ENST00000397528.4:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.159G>A
  hgvsp: ENST00000397532.3:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.159G>A
  hgvsp: ENST00000397529.2:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.159G>A
  hgvsp: ENST00000555702.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.159G>A
  hgvsp: ENST00000555911.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.159G>A
  hgvsp: ENST00000557129.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.159G>A
  hgvsp: ENST00000554758.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.159G>A
  hgvsp: ENST00000555251.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6398G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.159G>A
  hgvsp: ENST00000557629.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.159G>A
  hgvsp: ENST00000285850.7:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 3.25e1
  variant carriers: 855
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 359
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.75e1
  variant carriers: 977
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 740
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 468
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.75e1
  variant carriers: 534
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 348
genotype quality: GenotypeQuality
hgvs: p.Ser53Ser
num of homozygotes: 22980
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-23282454-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282454
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282454
    reference: chr 14
allele count: 2
allele frequency: 1.650028875505322e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.154G>A
  hgvsp: ENSP00000451881.1:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.154G>A
  hgvsp: ENSP00000450729.1:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.154G>A
  hgvsp: ENSP00000380662.4:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.154G>A
  hgvsp: ENSP00000380663.2:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.154G>A
  hgvsp: ENSP00000450715.1:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.154G>A
  hgvsp: ENSP00000421554.1:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.154G>A
  hgvsp: ENSP00000380666.3:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.154G>A
  hgvsp: ENSP00000285850.7:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6393G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.154G>A
  hgvsp: ENSP00000450495.1:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.154G>A
  hgvsp: ENSP00000450671.1:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.154G>A
  hgvsp: ENSP00000452551.1:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.154G>A
  hgvsp: ENSP00000451983.1:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly52Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

14-23282455-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282455
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282455
    reference: chr 14
allele count: 7
allele frequency: 5.775768177167563e-5
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.153C>T
  hgvsp: ENST00000397532.3:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.153C>T
  hgvsp: ENST00000488800.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.153C>T
  hgvsp: ENST00000555251.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.153C>T
  hgvsp: ENST00000555702.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.153C>T
  hgvsp: ENST00000397529.2:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.153C>T
  hgvsp: ENST00000285850.7:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.153C>T
  hgvsp: ENST00000557129.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.153C>T
  hgvsp: ENST00000555911.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6392C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.153C>T
  hgvsp: ENST00000397528.4:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.153C>T
  hgvsp: ENST00000556287.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.153C>T
  hgvsp: ENST00000554758.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.153C>T
  hgvsp: ENST00000557629.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile51Ile
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

14-23282481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282481
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282481
    reference: chr 14
allele count: 2
allele frequency: 1.652974527662529e-5
allele num: 120994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.127G>A
  hgvsp: ENSP00000451063.1:p.Val43Met
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.127G>A
  hgvsp: ENSP00000421554.1:p.Val43Met
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.127G>A
  hgvsp: ENSP00000450729.1:p.Val43Met
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.127G>A
  hgvsp: ENSP00000450671.1:p.Val43Met
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.127G>A
  hgvsp: ENSP00000451881.1:p.Val43Met
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.127G>A
  hgvsp: ENSP00000380666.3:p.Val43Met
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.127G>A
  hgvsp: ENSP00000451983.1:p.Val43Met
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.127G>A
  hgvsp: ENSP00000380662.4:p.Val43Met
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.127G>A
  hgvsp: ENSP00000452551.1:p.Val43Met
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.127G>A
  hgvsp: ENSP00000450495.1:p.Val43Met
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.127G>A
  hgvsp: ENSP00000380663.2:p.Val43Met
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6366G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.127G>A
  hgvsp: ENSP00000285850.7:p.Val43Met
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.127G>A
  hgvsp: ENSP00000450715.1:p.Val43Met
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val43Met
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-23282482-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282482
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282482
    reference: chr 14
allele count: 5
allele frequency: 4.132504628405184e-5
allele num: 120992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.126C>T
  hgvsp: ENST00000557629.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.126C>T
  hgvsp: ENST00000554758.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.126C>T
  hgvsp: ENST00000397529.2:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.126C>T
  hgvsp: ENST00000556287.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.126C>T
  hgvsp: ENST00000397532.3:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.126C>T
  hgvsp: ENST00000285850.7:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.126C>T
  hgvsp: ENST00000554741.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.126C>T
  hgvsp: ENST00000557129.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.126C>T
  hgvsp: ENST00000555251.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.126C>T
  hgvsp: ENST00000555702.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.126C>T
  hgvsp: ENST00000488800.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6365C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.126C>T
  hgvsp: ENST00000397528.4:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.126C>T
  hgvsp: ENST00000555911.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly42Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

14-23282485-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282485
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282485
    reference: chr 14
allele count: 6
allele frequency: 4.96089163759033e-5
allele num: 120946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.123C>T
  hgvsp: ENST00000557129.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6362C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.123C>T
  hgvsp: ENST00000397532.3:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.123C>T
  hgvsp: ENST00000556287.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.123C>T
  hgvsp: ENST00000555911.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.123C>T
  hgvsp: ENST00000554741.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.123C>T
  hgvsp: ENST00000555251.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.123C>T
  hgvsp: ENST00000285850.7:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.123C>T
  hgvsp: ENST00000557629.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.123C>T
  hgvsp: ENST00000397528.4:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.123C>T
  hgvsp: ENST00000555702.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.123C>T
  hgvsp: ENST00000397529.2:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.123C>T
  hgvsp: ENST00000554758.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.123C>T
  hgvsp: ENST00000488800.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn41Asn
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

14-23282493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282493
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282493
    reference: chr 14
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.115C>T
  hgvsp: ENST00000555702.1:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.115C>T
  hgvsp: ENST00000488800.1:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.115C>T
  hgvsp: ENST00000555251.1:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.115C>T
  hgvsp: ENST00000285850.7:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.115C>T
  hgvsp: ENST00000554741.1:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.115C>T
  hgvsp: ENST00000556287.1:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.115C>T
  hgvsp: ENST00000555911.1:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.115C>T
  hgvsp: ENST00000397529.2:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6354C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.115C>T
  hgvsp: ENST00000554758.1:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.115C>T
  hgvsp: ENST00000557129.1:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.115C>T
  hgvsp: ENST00000557629.1:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.115C>T
  hgvsp: ENST00000397532.3:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.115C>T
  hgvsp: ENST00000397528.4:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28904
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu39Leu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

14-23282493-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282493
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282493
    reference: chr 14
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.115C>G
  hgvsp: ENSP00000450729.1:p.Leu39Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.115C>G
  hgvsp: ENSP00000451063.1:p.Leu39Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.115C>G
  hgvsp: ENSP00000450495.1:p.Leu39Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.115C>G
  hgvsp: ENSP00000451881.1:p.Leu39Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.115C>G
  hgvsp: ENSP00000450671.1:p.Leu39Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.115C>G
  hgvsp: ENSP00000380663.2:p.Leu39Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.115C>G
  hgvsp: ENSP00000450715.1:p.Leu39Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.115C>G
  hgvsp: ENSP00000451983.1:p.Leu39Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.115C>G
  hgvsp: ENSP00000380662.4:p.Leu39Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.115C>G
  hgvsp: ENSP00000380666.3:p.Leu39Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.115C>G
  hgvsp: ENSP00000452551.1:p.Leu39Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.115C>G
  hgvsp: ENSP00000421554.1:p.Leu39Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6354C>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.115C>G
  hgvsp: ENSP00000285850.7:p.Leu39Val
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu39Val
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

14-23282497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282497
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282497
    reference: chr 14
allele count: 1
allele frequency: 8.279790686891435e-6
allele num: 120776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.111C>T
  hgvsp: ENST00000555251.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.111C>T
  hgvsp: ENST00000554741.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.111C>T
  hgvsp: ENST00000285850.7:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6350C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.111C>T
  hgvsp: ENST00000557129.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.111C>T
  hgvsp: ENST00000555911.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.111C>T
  hgvsp: ENST00000556287.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.111C>T
  hgvsp: ENST00000488800.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.111C>T
  hgvsp: ENST00000554758.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.111C>T
  hgvsp: ENST00000555702.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.111C>T
  hgvsp: ENST00000397529.2:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.111C>T
  hgvsp: ENST00000397528.4:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.111C>T
  hgvsp: ENST00000557629.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.111C>T
  hgvsp: ENST00000397532.3:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile37Ile
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

14-23282502-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282502
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282502
    reference: chr 14
allele count: 3
allele frequency: 2.487314695055218e-5
allele num: 120612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.106G>A
  hgvsp: ENSP00000450729.1:p.Glu36Lys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.106G>A
  hgvsp: ENSP00000450715.1:p.Glu36Lys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.106G>A
  hgvsp: ENSP00000451063.1:p.Glu36Lys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.106G>A
  hgvsp: ENSP00000380663.2:p.Glu36Lys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.106G>A
  hgvsp: ENSP00000380666.3:p.Glu36Lys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.106G>A
  hgvsp: ENSP00000450495.1:p.Glu36Lys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.106G>A
  hgvsp: ENSP00000451881.1:p.Glu36Lys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.106G>A
  hgvsp: ENSP00000285850.7:p.Glu36Lys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.106G>A
  hgvsp: ENSP00000421554.1:p.Glu36Lys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.106G>A
  hgvsp: ENSP00000380662.4:p.Glu36Lys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.106G>A
  hgvsp: ENSP00000451983.1:p.Glu36Lys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.106G>A
  hgvsp: ENSP00000450671.1:p.Glu36Lys
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6345G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.106G>A
  hgvsp: ENSP00000452551.1:p.Glu36Lys
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu36Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

14-23282503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282503
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282503
    reference: chr 14
allele count: 1
allele frequency: 8.297928836962294e-6
allele num: 120512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.105G>A
  hgvsp: ENST00000555702.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.105G>A
  hgvsp: ENST00000555251.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.105G>A
  hgvsp: ENST00000554741.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.105G>A
  hgvsp: ENST00000397532.3:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.105G>A
  hgvsp: ENST00000557129.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.105G>A
  hgvsp: ENST00000488800.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.105G>A
  hgvsp: ENST00000397529.2:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.105G>A
  hgvsp: ENST00000557629.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6344G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.105G>A
  hgvsp: ENST00000554758.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.105G>A
  hgvsp: ENST00000285850.7:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.105G>A
  hgvsp: ENST00000556287.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.105G>A
  hgvsp: ENST00000397528.4:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.105G>A
  hgvsp: ENST00000555911.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys35Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

14-23282509-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282509
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282509
    reference: chr 14
allele count: 1
allele frequency: 8.306889734345666e-6
allele num: 120382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.99G>A
  hgvsp: ENST00000554758.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.99G>A
  hgvsp: ENST00000554741.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.99G>A
  hgvsp: ENST00000285850.7:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.99G>A
  hgvsp: ENST00000557129.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.99G>A
  hgvsp: ENST00000397529.2:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.99G>A
  hgvsp: ENST00000555251.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.99G>A
  hgvsp: ENST00000397532.3:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.99G>A
  hgvsp: ENST00000397528.4:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6338G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.99G>A
  hgvsp: ENST00000488800.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.99G>A
  hgvsp: ENST00000557629.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.99G>A
  hgvsp: ENST00000556287.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.99G>A
  hgvsp: ENST00000555702.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.99G>A
  hgvsp: ENST00000555911.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28582
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu33Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-23282512-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282512
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282512
    reference: chr 14
allele count: 2
allele frequency: 1.664447403462051e-5
allele num: 120160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.96G>T
  hgvsp: ENSP00000451063.1:p.Lys32Asn
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.96G>T
  hgvsp: ENSP00000450671.1:p.Lys32Asn
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.96G>T
  hgvsp: ENSP00000421554.1:p.Lys32Asn
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.96G>T
  hgvsp: ENSP00000450729.1:p.Lys32Asn
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.96G>T
  hgvsp: ENSP00000451983.1:p.Lys32Asn
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.96G>T
  hgvsp: ENSP00000380666.3:p.Lys32Asn
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.96G>T
  hgvsp: ENSP00000450715.1:p.Lys32Asn
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.96G>T
  hgvsp: ENSP00000380663.2:p.Lys32Asn
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.96G>T
  hgvsp: ENSP00000285850.7:p.Lys32Asn
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.96G>T
  hgvsp: ENSP00000450495.1:p.Lys32Asn
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.96G>T
  hgvsp: ENSP00000452551.1:p.Lys32Asn
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.96G>T
  hgvsp: ENSP00000380662.4:p.Lys32Asn
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.96G>T
  hgvsp: ENSP00000451881.1:p.Lys32Asn
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6335G>T
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys32Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

14-23282512-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282512
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282512
    reference: chr 14
allele count: 1491
allele frequency: 1.240845539280959e-2
allele num: 120160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.96G>A
  hgvsp: ENST00000554758.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.96G>A
  hgvsp: ENST00000556287.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.96G>A
  hgvsp: ENST00000397528.4:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.96G>A
  hgvsp: ENST00000555702.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.96G>A
  hgvsp: ENST00000555911.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.96G>A
  hgvsp: ENST00000557129.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.96G>A
  hgvsp: ENST00000285850.7:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.96G>A
  hgvsp: ENST00000555251.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.96G>A
  hgvsp: ENST00000554741.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.96G>A
  hgvsp: ENST00000397532.3:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.96G>A
  hgvsp: ENST00000397529.2:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6335G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.96G>A
  hgvsp: ENST00000557629.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.96G>A
  hgvsp: ENST00000488800.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.75e1
  variant carriers: 1043
genotype depth: GenotypeDepth
  all individuals: 28324
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
hgvs: p.Lys32Lys
num of homozygotes: 14
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-23282517-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282517
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282517
    reference: chr 14
allele count: 13
allele frequency: 1.086411499247869e-4
allele num: 119660
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.91G>C
  hgvsp: ENSP00000421554.1:p.Val31Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.91G>C
  hgvsp: ENSP00000450715.1:p.Val31Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6330G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.91G>C
  hgvsp: ENSP00000380663.2:p.Val31Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.91G>C
  hgvsp: ENSP00000451983.1:p.Val31Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.91G>C
  hgvsp: ENSP00000452551.1:p.Val31Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.91G>C
  hgvsp: ENSP00000450495.1:p.Val31Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.91G>C
  hgvsp: ENSP00000380666.3:p.Val31Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.91G>C
  hgvsp: ENST00000555959.1:c.91G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.91G>C
  hgvsp: ENSP00000450729.1:p.Val31Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.91G>C
  hgvsp: ENSP00000451063.1:p.Val31Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.91G>C
  hgvsp: ENSP00000450671.1:p.Val31Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.91G>C
  hgvsp: ENSP00000285850.7:p.Val31Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.91G>C
  hgvsp: ENSP00000380662.4:p.Val31Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.91G>C
  hgvsp: ENSP00000451881.1:p.Val31Leu
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28941
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9919
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val31Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS

14-23282521-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282521
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282521
    reference: chr 14
allele count: 1
allele frequency: 8.368761088608442e-6
allele num: 119492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.87G>A
  hgvsp: ENST00000554741.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.87G>A
  hgvsp: ENST00000285850.7:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.87G>A
  hgvsp: ENST00000555911.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.87G>A
  hgvsp: ENST00000555702.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.87G>A
  hgvsp: ENST00000397532.3:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.87G>A
  hgvsp: ENST00000397529.2:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.87G>A
  hgvsp: ENST00000554758.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.87G>A
  hgvsp: ENST00000557129.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.87G>A
  hgvsp: ENST00000488800.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.87G>A
  hgvsp: ENST00000555959.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.87G>A
  hgvsp: ENST00000555251.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.87G>A
  hgvsp: ENST00000557629.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6326G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.87G>A
  hgvsp: ENST00000556287.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.87G>A
  hgvsp: ENST00000397528.4:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu29Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-23282524-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282524
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282524
    reference: chr 14
allele count: 1
allele frequency: 8.382932349735938e-6
allele num: 119290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.84G>A
  hgvsp: ENST00000557629.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.84G>A
  hgvsp: ENST00000397532.3:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.84G>A
  hgvsp: ENST00000555911.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.84G>A
  hgvsp: ENST00000555702.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.84G>A
  hgvsp: ENST00000397528.4:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6323G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.84G>A
  hgvsp: ENST00000555959.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.84G>A
  hgvsp: ENST00000556287.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.84G>A
  hgvsp: ENST00000555251.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.84G>A
  hgvsp: ENST00000554741.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.84G>A
  hgvsp: ENST00000488800.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.84G>A
  hgvsp: ENST00000397529.2:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.84G>A
  hgvsp: ENST00000557129.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.84G>A
  hgvsp: ENST00000285850.7:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.84G>A
  hgvsp: ENST00000554758.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro28Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

14-23282525-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282525
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282525
    reference: chr 14
allele count: 2
allele frequency: 1.676923850887931e-5
allele num: 119266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.83C>T
  hgvsp: ENSP00000450729.1:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.83C>T
  hgvsp: ENSP00000452551.1:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.83C>T
  hgvsp: ENSP00000285850.7:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.83C>T
  hgvsp: ENSP00000450715.1:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.83C>T
  hgvsp: ENSP00000421554.1:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.83C>T
  hgvsp: ENSP00000450671.1:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.83C>T
  hgvsp: ENSP00000451983.1:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.83C>T
  hgvsp: ENSP00000380666.3:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.83C>T
  hgvsp: ENSP00000380663.2:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.83C>T
  hgvsp: ENSP00000451881.1:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.83C>T
  hgvsp: ENSP00000452256.1:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.83C>T
  hgvsp: ENSP00000380662.4:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.83C>T
  hgvsp: ENSP00000450495.1:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.83C>T
  hgvsp: ENSP00000451063.1:p.Pro28Leu
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6322C>T
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9915
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro28Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

14-23282536-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282536
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282536
    reference: chr 14
allele count: 1
allele frequency: 8.422896802668375e-6
allele num: 118724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.72C>T
  hgvsp: ENST00000397529.2:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.72C>T
  hgvsp: ENST00000397532.3:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.72C>T
  hgvsp: ENST00000557129.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.72C>T
  hgvsp: ENST00000556287.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.72C>T
  hgvsp: ENST00000285850.7:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.72C>T
  hgvsp: ENST00000555251.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.72C>T
  hgvsp: ENST00000555702.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.72C>T
  hgvsp: ENST00000488800.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.72C>T
  hgvsp: ENST00000554758.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.72C>T
  hgvsp: ENST00000554741.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.72C>T
  hgvsp: ENST00000555959.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.72C>T
  hgvsp: ENST00000397528.4:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.72C>T
  hgvsp: ENST00000557629.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.72C>T
  hgvsp: ENST00000555911.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6311C>T
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala24Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

14-23282553-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282553
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282553
    reference: chr 14
allele count: 2
allele frequency: 1.697447039652363e-5
allele num: 117824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.55C>A
  hgvsp: ENSP00000380662.4:p.Pro19Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.55C>A
  hgvsp: ENSP00000380663.2:p.Pro19Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.55C>A
  hgvsp: ENSP00000450729.1:p.Pro19Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.55C>A
  hgvsp: ENSP00000285850.7:p.Pro19Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.55C>A
  hgvsp: ENSP00000450495.1:p.Pro19Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.55C>A
  hgvsp: ENSP00000451063.1:p.Pro19Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.55C>A
  hgvsp: ENSP00000452256.1:p.Pro19Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.55C>A
  hgvsp: ENSP00000451983.1:p.Pro19Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.55C>A
  hgvsp: ENSP00000450715.1:p.Pro19Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6294C>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.55C>A
  hgvsp: ENSP00000421554.1:p.Pro19Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.55C>A
  hgvsp: ENSP00000452551.1:p.Pro19Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.55C>A
  hgvsp: ENSP00000450671.1:p.Pro19Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.55C>A
  hgvsp: ENSP00000380666.3:p.Pro19Thr
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.55C>A
  hgvsp: ENSP00000451881.1:p.Pro19Thr
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro19Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

14-23282559-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282559
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282559
    reference: chr 14
allele count: 2
allele frequency: 1.702475399230481e-5
allele num: 117476
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.49A>G
  hgvsp: ENSP00000380663.2:p.Thr17Ala
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.49A>G
  hgvsp: ENSP00000380662.4:p.Thr17Ala
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.49A>G
  hgvsp: ENSP00000452256.1:p.Thr17Ala
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.49A>G
  hgvsp: ENSP00000450495.1:p.Thr17Ala
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.49A>G
  hgvsp: ENSP00000421554.1:p.Thr17Ala
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.49A>G
  hgvsp: ENSP00000451983.1:p.Thr17Ala
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.49A>G
  hgvsp: ENSP00000451881.1:p.Thr17Ala
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.49A>G
  hgvsp: ENSP00000450671.1:p.Thr17Ala
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.49A>G
  hgvsp: ENSP00000452551.1:p.Thr17Ala
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.49A>G
  hgvsp: ENSP00000450729.1:p.Thr17Ala
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.49A>G
  hgvsp: ENSP00000380666.3:p.Thr17Ala
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.49A>G
  hgvsp: ENSP00000285850.7:p.Thr17Ala
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.49A>G
  hgvsp: ENSP00000450715.1:p.Thr17Ala
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.49A>G
  hgvsp: ENSP00000451063.1:p.Thr17Ala
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6288A>G
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9725
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr17Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/14-23282563-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282563
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282563
    reference: chr 14
allele count: 1
allele frequency: 8.521952549768203e-6
allele num: 117344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.45G>T
  hgvsp: ENST00000554758.1:c.45G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6284G>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.45G>T
  hgvsp: ENST00000557629.1:c.45G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.45G>T
  hgvsp: ENST00000555959.1:c.45G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.45G>T
  hgvsp: ENST00000488800.1:c.45G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.45G>T
  hgvsp: ENST00000397532.3:c.45G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.45G>T
  hgvsp: ENST00000555251.1:c.45G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.45G>T
  hgvsp: ENST00000397528.4:c.45G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.45G>T
  hgvsp: ENST00000557129.1:c.45G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.45G>T
  hgvsp: ENST00000554741.1:c.45G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.45G>T
  hgvsp: ENST00000556287.1:c.45G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.45G>T
  hgvsp: ENST00000555702.1:c.45G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.45G>T
  hgvsp: ENST00000555911.1:c.45G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.45G>T
  hgvsp: ENST00000397529.2:c.45G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.45G>T
  hgvsp: ENST00000285850.7:c.45G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val15Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

14-23282575-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282575
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282575
    reference: chr 14
allele count: 1
allele frequency: 8.555783709787816e-6
allele num: 116880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.33C>G
  hgvsp: ENST00000397528.4:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.33C>G
  hgvsp: ENST00000488800.1:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.33C>G
  hgvsp: ENST00000557629.1:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.33C>G
  hgvsp: ENST00000555959.1:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.33C>G
  hgvsp: ENST00000555251.1:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.33C>G
  hgvsp: ENST00000554758.1:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.33C>G
  hgvsp: ENST00000285850.7:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.33C>G
  hgvsp: ENST00000397529.2:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.33C>G
  hgvsp: ENST00000555702.1:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.33C>G
  hgvsp: ENST00000556287.1:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.33C>G
  hgvsp: ENST00000557129.1:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.33C>G
  hgvsp: ENST00000397532.3:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.33C>G
  hgvsp: ENST00000554741.1:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6272C>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.33C>G
  hgvsp: ENST00000555911.1:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser11Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

14-23282576-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282576
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282576
    reference: chr 14
allele count: 1
allele frequency: 8.557980316645272e-6
allele num: 116850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.32C>T
  hgvsp: ENSP00000452256.1:p.Ser11Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.32C>T
  hgvsp: ENSP00000380666.3:p.Ser11Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.32C>T
  hgvsp: ENSP00000451881.1:p.Ser11Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.32C>T
  hgvsp: ENSP00000421554.1:p.Ser11Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.32C>T
  hgvsp: ENSP00000451983.1:p.Ser11Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.32C>T
  hgvsp: ENSP00000450715.1:p.Ser11Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.32C>T
  hgvsp: ENSP00000450729.1:p.Ser11Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.32C>T
  hgvsp: ENSP00000452551.1:p.Ser11Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.32C>T
  hgvsp: ENSP00000380662.4:p.Ser11Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6271C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.32C>T
  hgvsp: ENSP00000451063.1:p.Ser11Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.32C>T
  hgvsp: ENSP00000450495.1:p.Ser11Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.32C>T
  hgvsp: ENSP00000450671.1:p.Ser11Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.32C>T
  hgvsp: ENSP00000380663.2:p.Ser11Phe
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.32C>T
  hgvsp: ENSP00000285850.7:p.Ser11Phe
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser11Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

14-23282579-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282579
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282579
    reference: chr 14
allele count: 2
allele frequency: 1.713825429741726e-5
allele num: 116698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.29C>T
  hgvsp: ENSP00000451063.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.29C>T
  hgvsp: ENSP00000451983.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.29C>T
  hgvsp: ENSP00000452256.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.29C>T
  hgvsp: ENSP00000380663.2:p.Ala10Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.29C>T
  hgvsp: ENSP00000380662.4:p.Ala10Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.29C>T
  hgvsp: ENSP00000380666.3:p.Ala10Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.29C>T
  hgvsp: ENSP00000450729.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.29C>T
  hgvsp: ENSP00000451881.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6268C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.29C>T
  hgvsp: ENSP00000285850.7:p.Ala10Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.29C>T
  hgvsp: ENSP00000450671.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.29C>T
  hgvsp: ENSP00000450495.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.29C>T
  hgvsp: ENSP00000452551.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.29C>T
  hgvsp: ENSP00000450715.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.29C>T
  hgvsp: ENSP00000421554.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala10Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

14-23282584-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282584
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282584
    reference: chr 14
allele count: 1
allele frequency: 8.578536501672815e-6
allele num: 116570
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.24A>G
  hgvsp: ENST00000554741.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.24A>G
  hgvsp: ENST00000557129.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6263A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.24A>G
  hgvsp: ENST00000555959.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.24A>G
  hgvsp: ENST00000555251.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.24A>G
  hgvsp: ENST00000554758.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.24A>G
  hgvsp: ENST00000555702.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.24A>G
  hgvsp: ENST00000556287.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.24A>G
  hgvsp: ENST00000488800.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.24A>G
  hgvsp: ENST00000555911.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.24A>G
  hgvsp: ENST00000397532.3:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.24A>G
  hgvsp: ENST00000285850.7:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.24A>G
  hgvsp: ENST00000397529.2:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.24A>G
  hgvsp: ENST00000397528.4:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.24A>G
  hgvsp: ENST00000557629.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu8Glu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

14-23282598-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282598
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282598
    reference: chr 14
allele count: 1
allele frequency: 8.610594475442584e-6
allele num: 116136
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.10A>C
  hgvsp: ENSP00000452256.1:p.Ser4Arg
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.10A>C
  hgvsp: ENSP00000451063.1:p.Ser4Arg
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.10A>C
  hgvsp: ENSP00000380666.3:p.Ser4Arg
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.10A>C
  hgvsp: ENSP00000421554.1:p.Ser4Arg
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.10A>C
  hgvsp: ENSP00000451881.1:p.Ser4Arg
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.10A>C
  hgvsp: ENSP00000452551.1:p.Ser4Arg
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.10A>C
  hgvsp: ENSP00000450729.1:p.Ser4Arg
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.10A>C
  hgvsp: ENSP00000450495.1:p.Ser4Arg
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.10A>C
  hgvsp: ENSP00000451983.1:p.Ser4Arg
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.10A>C
  hgvsp: ENSP00000380663.2:p.Ser4Arg
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.10A>C
  hgvsp: ENSP00000450715.1:p.Ser4Arg
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.10A>C
  hgvsp: ENSP00000380662.4:p.Ser4Arg
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6249A>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.10A>C
  hgvsp: ENSP00000450671.1:p.Ser4Arg
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.10A>C
  hgvsp: ENSP00000285850.7:p.Ser4Arg
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser4Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

14-23282610-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282610
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282610
    reference: chr 14
allele count: 1
allele frequency: 8.639010314978316e-6
allele num: 115754
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.-3A>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.-3A>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.-3A>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.-3A>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.-3A>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.-3A>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.-3A>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.-3A>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.-3A>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.-3A>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6237A>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.-3A>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.-3A>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.-3A>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.-3A>C
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

14-23282625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282625
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282625
    reference: chr 14
allele count: 92
allele frequency: 7.999026205505416e-4
allele num: 115014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.-18G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.-18G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.-18G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.-18G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155465
  ensembl transcript: ENST00000553874
  gene symbol: SLC7A7
  hgvsc: ENST00000553874.1:n.569G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6222G>A
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14344
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 9240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 27971
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

14-23282626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282626
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282626
    reference: chr 14
allele count: 6
allele frequency: 5.223568742164647e-5
allele num: 114864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.-19G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.-19G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155465
  ensembl transcript: ENST00000553874
  gene symbol: SLC7A7
  hgvsc: ENST00000553874.1:n.568G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6221G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.-19G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.-19G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27984
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

14-23282631-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282631
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282631
    reference: chr 14
allele count: 1
allele frequency: 8.717787774174425e-6
allele num: 114708
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.-24G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155465
  ensembl transcript: ENST00000553351
  gene symbol: SLC7A7
  hgvsc: ENST00000553351.1:n.579G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.-24G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.-24G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155465
  ensembl transcript: ENST00000553874
  gene symbol: SLC7A7
  hgvsc: ENST00000553874.1:n.563G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6216G>C
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.-24G>C
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

14-23282634-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282634
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282634
    reference: chr 14
allele count: 2
allele frequency: 1.746724890829694e-5
allele num: 114500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.-27C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155465
  ensembl transcript: ENST00000553351
  gene symbol: SLC7A7
  hgvsc: ENST00000553351.1:n.576C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6213C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.-27C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.-27C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.-27C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155465
  ensembl transcript: ENST00000553874
  gene symbol: SLC7A7
  hgvsc: ENST00000553874.1:n.560C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

14-23282640-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282640
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282640
    reference: chr 14
allele count: 1
allele frequency: 8.770852702299717e-6
allele num: 114014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.-33A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.-33A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6207A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.-33A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.-33A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155465
  ensembl transcript: ENST00000553874
  gene symbol: SLC7A7
  hgvsc: ENST00000553874.1:n.554A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.-33A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155465
  ensembl transcript: ENST00000553351
  gene symbol: SLC7A7
  hgvsc: ENST00000553351.1:n.570A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.-33A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.-33A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.-33A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.-33A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.-33A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.-33A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.-33A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.-33A>G
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.-33A>G
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

14-23282649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23282649
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23282649
    reference: chr 14
allele count: 2
allele frequency: 1.787086512858087e-5
allele num: 111914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000285850
  ensembl transcript: ENST00000285850
  gene symbol: SLC7A7
  hgvsc: ENST00000285850.7:c.-42G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452083
  ensembl transcript: ENST00000554517
  gene symbol: SLC7A7
  hgvsc: ENST00000554517.1:c.-300+6198G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452256
  ensembl transcript: ENST00000555959
  gene symbol: SLC7A7
  hgvsc: ENST00000555959.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450729
  ensembl transcript: ENST00000557129
  gene symbol: SLC7A7
  hgvsc: ENST00000557129.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000452551
  ensembl transcript: ENST00000555911
  gene symbol: SLC7A7
  hgvsc: ENST00000555911.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450495
  ensembl transcript: ENST00000557629
  gene symbol: SLC7A7
  hgvsc: ENST00000557629.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155465
  ensembl transcript: ENST00000553351
  gene symbol: SLC7A7
  hgvsc: ENST00000553351.1:n.561G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451063
  ensembl transcript: ENST00000554741
  gene symbol: SLC7A7
  hgvsc: ENST00000554741.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450715
  ensembl transcript: ENST00000556287
  gene symbol: SLC7A7
  hgvsc: ENST00000556287.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380662
  ensembl transcript: ENST00000397528
  gene symbol: SLC7A7
  hgvsc: ENST00000397528.4:c.-42G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451983
  ensembl transcript: ENST00000555251
  gene symbol: SLC7A7
  hgvsc: ENST00000555251.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000421554
  ensembl transcript: ENST00000488800
  gene symbol: SLC7A7
  hgvsc: ENST00000488800.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000451881
  ensembl transcript: ENST00000555702
  gene symbol: SLC7A7
  hgvsc: ENST00000555702.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380666
  ensembl transcript: ENST00000397532
  gene symbol: SLC7A7
  hgvsc: ENST00000397532.3:c.-42G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155465
  ensembl transcript: ENST00000553874
  gene symbol: SLC7A7
  hgvsc: ENST00000553874.1:n.545G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000380663
  ensembl transcript: ENST00000397529
  gene symbol: SLC7A7
  hgvsc: ENST00000397529.2:c.-42G>A
  variant of: http://identifiers.org/hgnc/11065
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155465
  ensembl protein: ENSP00000450671
  ensembl transcript: ENST00000554758
  gene symbol: SLC7A7
  hgvsc: ENST00000554758.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/11065
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.-42G>A
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-56534764-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56534764
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 56534764
    reference: chr 16
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125124
  ensembl protein: ENSP00000455651
  ensembl transcript: ENST00000562012
  gene symbol: BBS2
  hgvsc: ENST00000562012.1:c.*429+2T>C
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000125124
  ensembl transcript: ENST00000566495
  gene symbol: BBS2
  hgvsc: ENST00000566495.1:n.366+2T>C
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000125124
  ensembl transcript: ENST00000566452
  gene symbol: BBS2
  hgvsc: ENST00000566452.1:n.92+2T>C
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000125124
  ensembl protein: ENSP00000245157
  ensembl transcript: ENST00000245157
  gene symbol: BBS2
  hgvsc: ENST00000245157.5:c.1397+2T>C
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000125124
  ensembl transcript: ENST00000566210
  gene symbol: BBS2
  hgvsc: ENST00000566210.1:n.323+2T>C
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125124
  ensembl transcript: ENST00000562813
  gene symbol: BBS2
  hgvsc: ENST00000562813.1:n.68T>C
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000125124
  ensembl protein: ENSP00000456289
  ensembl transcript: ENST00000568104
  gene symbol: BBS2
  hgvsc: ENST00000568104.1:c.1397+2T>C
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125124
  ensembl protein: ENSP00000454986
  ensembl transcript: ENST00000561877
  gene symbol: BBS2
  hgvsc: ENST00000561877.1:c.93+2T>C
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125124
  ensembl transcript: ENST00000565781
  gene symbol: BBS2
  hgvsc: ENST00000565781.1:n.2775T>C
  variant of: http://identifiers.org/hgnc/967
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17636
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1397+2T>C
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

16-56534766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56534766
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 56534766
    reference: chr 16
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125124
  ensembl protein: ENSP00000245157
  ensembl transcript: ENST00000245157
  gene symbol: BBS2
  hgvsc: ENST00000245157.5:c.1397G>A
  hgvsp: ENSP00000245157.5:p.Ser466Asn
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125124
  ensembl protein: ENSP00000454986
  ensembl transcript: ENST00000561877
  gene symbol: BBS2
  hgvsc: ENST00000561877.1:c.93G>A
  hgvsp: ENSP00000454986.1:p.Ser32Asn
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125124
  ensembl transcript: ENST00000566210
  gene symbol: BBS2
  hgvsc: ENST00000566210.1:n.323G>A
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125124
  ensembl protein: ENSP00000456289
  ensembl transcript: ENST00000568104
  gene symbol: BBS2
  hgvsc: ENST00000568104.1:c.1397G>A
  hgvsp: ENSP00000456289.1:p.Ser466Asn
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125124
  ensembl transcript: ENST00000566495
  gene symbol: BBS2
  hgvsc: ENST00000566495.1:n.366G>A
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125124
  ensembl transcript: ENST00000562813
  gene symbol: BBS2
  hgvsc: ENST00000562813.1:n.66G>A
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125124
  ensembl transcript: ENST00000565781
  gene symbol: BBS2
  hgvsc: ENST00000565781.1:n.2773G>A
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125124
  ensembl transcript: ENST00000566452
  gene symbol: BBS2
  hgvsc: ENST00000566452.1:n.92G>A
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125124
  ensembl protein: ENSP00000455651
  ensembl transcript: ENST00000562012
  gene symbol: BBS2
  hgvsc: ENST00000562012.1:c.*429G>A
  variant of: http://identifiers.org/hgnc/967
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser466Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

16-56534782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56534782
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 56534782
    reference: chr 16
allele count: 6
allele frequency: 4.942909396470763e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125124
  ensembl protein: ENSP00000454986
  ensembl transcript: ENST00000561877
  gene symbol: BBS2
  hgvsc: ENST00000561877.1:c.77G>A
  hgvsp: ENSP00000454986.1:p.Val27Met
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125124
  ensembl transcript: ENST00000562813
  gene symbol: BBS2
  hgvsc: ENST00000562813.1:n.50G>A
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125124
  ensembl protein: ENSP00000455651
  ensembl transcript: ENST00000562012
  gene symbol: BBS2
  hgvsc: ENST00000562012.1:c.*413G>A
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125124
  ensembl transcript: ENST00000566452
  gene symbol: BBS2
  hgvsc: ENST00000566452.1:n.76G>A
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125124
  ensembl protein: ENSP00000245157
  ensembl transcript: ENST00000245157
  gene symbol: BBS2
  hgvsc: ENST00000245157.5:c.1381G>A
  hgvsp: ENSP00000245157.5:p.Val461Met
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125124
  ensembl transcript: ENST00000566210
  gene symbol: BBS2
  hgvsc: ENST00000566210.1:n.307G>A
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125124
  ensembl transcript: ENST00000565781
  gene symbol: BBS2
  hgvsc: ENST00000565781.1:n.2757G>A
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125124
  ensembl protein: ENSP00000456289
  ensembl transcript: ENST00000568104
  gene symbol: BBS2
  hgvsc: ENST00000568104.1:c.1381G>A
  hgvsp: ENSP00000456289.1:p.Val461Met
  variant of: http://identifiers.org/hgnc/967
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125124
  ensembl transcript: ENST00000566495
  gene symbol: BBS2
  hgvsc: ENST00000566495.1:n.350G>A
  variant of: http://identifiers.org/hgnc/967
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11560
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val461Met
num of homozygotes: 0
reference allele: C

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

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

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

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1485
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1237
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39230
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11910
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2678
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.374e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

DP
type: SiteQuality
SIO_000300: 2.968601e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

GenotypeQuality
all individuals: 1527
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 11910
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2678
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39230
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 1017
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.77e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

DP
type: SiteQuality
SIO_000300: 2.968601e6

QD
type: SiteQuality
SIO_000300: 1.374e1

GenotypeDepth
all individuals: 2494
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 929
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1527
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11912
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2678
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1238
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1595
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39232
bin: 9.75e1
variant carriers: 6

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

East Asian
type: Population
allele count: 6
allele frequency: 6.933210076265311e-4
allele num: 8654
num of homozygotes: 0

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

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

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

Other
type: Population
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FS
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MQ
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QD
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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QD
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InbreedingCoeff
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ClippingRankSum
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MQ
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VQSLOD
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MQRankSum
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ReadPosRankSum
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FS
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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East Asian
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African
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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MQ
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VQSLOD
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QD
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MQRankSum
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DP
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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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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BaseQRankSum
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QD
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DP
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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ReadPosRankSum
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ClippingRankSum
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MQ
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MQRankSum
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FS
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DP
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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QD
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VQSLOD
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MQ
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FS
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ReadPosRankSum
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South Asian
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African
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DP
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MQ
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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QD
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DP
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ReadPosRankSum
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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

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

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

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

Latino
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allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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MQRankSum
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DP
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MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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GenotypeDepth
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variant carriers: 1

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

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

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

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

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

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

ReadPosRankSum
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SIO_000300: 1.98e0

MQ
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SIO_000300: 5.981e1

BaseQRankSum
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SIO_000300: 4.9e0

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

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

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

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

VQSLOD
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SIO_000300: 8.79e-1

ReadPosRankSum
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MQ
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InbreedingCoeff
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QD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 3.2e-2

FS
type: SiteQuality
SIO_000300: 5.25e-1

DP
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MQRankSum
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SIO_000300: -1.22e-1

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
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allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 12
allele frequency: 1.798129944857348e-4
allele num: 66736
num of homozygotes: 0

African
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allele num: 10406
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South Asian
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allele num: 16512
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Other
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ReadPosRankSum
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SIO_000300: 5.09e-1

ClippingRankSum
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DP
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BaseQRankSum
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MQ
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FS
type: SiteQuality
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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variant carriers: 8

GenotypeDepth
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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 frequency: 4.232164449818622e-3
allele num: 11578
num of homozygotes: 0

European (Finnish)
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allele frequency: 2.403991533111581e-2
allele num: 6614
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East Asian
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African
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South Asian
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European (Non-Finnish)
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allele num: 66734
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Other
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MQ
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DP
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MQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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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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variant carriers: 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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 9.609840476648087e-5
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Latino
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East Asian
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South Asian
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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QD
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MQRankSum
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FS
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InbreedingCoeff
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SIO_000300: 1.0e-4

ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

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

European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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South Asian
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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FS
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VQSLOD
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QD
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MQ
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ReadPosRankSum
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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: 2.884060757546626e-4
allele num: 10402
num of homozygotes: 0

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
allele num: 11578
num of homozygotes: 0

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

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

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

South Asian
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Other
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African
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allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 66736
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European (Finnish)
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
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QD
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MQ
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DP
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MQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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Other
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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QD
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MQ
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Other
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East Asian
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Latino
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South Asian
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European (Finnish)
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MQRankSum
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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MQ
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DP
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VQSLOD
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ClippingRankSum
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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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European (Finnish)
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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: 74
allele frequency: 1.108846799328698e-3
allele num: 66736
num of homozygotes: 0

South Asian
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allele frequency: 2.664728682170543e-3
allele num: 16512
num of homozygotes: 0

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

Latino
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allele frequency: 4.318535152876144e-4
allele num: 11578
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

East Asian
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num of homozygotes: 0

BaseQRankSum
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FS
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QD
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DP
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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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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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

FS
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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QD
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

DP
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SIO_000300: 3.110433e6

MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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QD
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SIO_000300: 1.228e1

ReadPosRankSum
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SIO_000300: 1.36e0

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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bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

African
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East Asian
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European (Non-Finnish)
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allele num: 66728
num of homozygotes: 0

South Asian
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Latino
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Other
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ReadPosRankSum
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MQ
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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DP
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FS
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

East Asian
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Other
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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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MQRankSum
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QD
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FS
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Non-Finnish)
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Other
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African
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European (Finnish)
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.110752e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.698e0

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.56e-1

QD
type: SiteQuality
SIO_000300: 1.493e1

FS
type: SiteQuality
SIO_000300: 1.617e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

GenotypeDepth
all individuals: 163
bin: 1.75e1
variant carriers: 117

GenotypeDepth
all individuals: 597
bin: 5.75e1
variant carriers: 584

GenotypeDepth
all individuals: 4461
bin: 2.75e1
variant carriers: 556

GenotypeDepth
all individuals: 41119
bin: 9.75e1
variant carriers: 41037

GenotypeDepth
all individuals: 1283
bin: 3.75e1
variant carriers: 1085

GenotypeDepth
all individuals: 385
bin: 6.75e1
variant carriers: 381

GenotypeDepth
all individuals: 4664
bin: 2.25e1
variant carriers: 262

GenotypeDepth
all individuals: 721
bin: 9.25e1
variant carriers: 719

GenotypeDepth
all individuals: 486
bin: 8.25e1
variant carriers: 482

GenotypeDepth
all individuals: 1132
bin: 4.25e1
variant carriers: 1062

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 22

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 12

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 50224
bin: 9.75e1
variant carriers: 50062

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 130

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1041
bin: 6.75e1
variant carriers: 31

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 13

GenotypeQuality
all individuals: 245
bin: 8.25e1
variant carriers: 103

GenotypeQuality
all individuals: 274
bin: 7.25e1
variant carriers: 44

GenotypeQuality
all individuals: 285
bin: 7.75e1
variant carriers: 61

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 59

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 14

GenotypeQuality
all individuals: 7921
bin: 6.25e1
variant carriers: 41

Other
type: Population
allele count: 535
allele frequency: 5.892070484581498e-1
allele num: 908
num of homozygotes: 157

South Asian
type: Population
allele count: 7967
allele frequency: 4.833171560300898e-1
allele num: 16484
num of homozygotes: 1995

Latino
type: Population
allele count: 8710
allele frequency: 7.531995849187132e-1
allele num: 11564
num of homozygotes: 3334

European (Non-Finnish)
type: Population
allele count: 40319
allele frequency: 6.051359788677433e-1
allele num: 66628
num of homozygotes: 12266

African
type: Population
allele count: 5139
allele frequency: 4.972904973872653e-1
allele num: 10334
num of homozygotes: 1276

European (Finnish)
type: Population
allele count: 4047
allele frequency: 6.139259708737864e-1
allele num: 6592
num of homozygotes: 1241

East Asian
type: Population
allele count: 6864
allele frequency: 7.935260115606937e-1
allele num: 8650
num of homozygotes: 2711

VQSLOD
type: SiteQuality
SIO_000300: 7.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 7.21438e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.08e-1

FS
type: SiteQuality
SIO_000300: 4.996e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 2.292e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.96e-2

GenotypeDepth
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
all individuals: 39
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variant carriers: 0

GenotypeDepth
all individuals: 37
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variant carriers: 0

GenotypeDepth
all individuals: 75
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variant carriers: 0

GenotypeDepth
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 2385
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variant carriers: 2

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 1532
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variant carriers: 0

GenotypeQuality
all individuals: 45252
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variant carriers: 0

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 894
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variant carriers: 0

GenotypeQuality
all individuals: 1510
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variant carriers: 0

GenotypeQuality
all individuals: 177
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variant carriers: 0

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

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 522
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variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7622
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: -1.227e0

FS
type: SiteQuality
SIO_000300: 1.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

QD
type: SiteQuality
SIO_000300: 2.632e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.813247e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.59e0

GenotypeDepth
all individuals: 656
bin: 9.75e1
variant carriers: 7

GenotypeDepth
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 590
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variant carriers: 0

GenotypeDepth
all individuals: 49
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variant carriers: 0

GenotypeDepth
all individuals: 39
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variant carriers: 0

GenotypeDepth
all individuals: 72
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 519
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variant carriers: 0

GenotypeQuality
all individuals: 394
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variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2380
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variant carriers: 7

GenotypeQuality
all individuals: 889
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variant carriers: 0

GenotypeQuality
all individuals: 7622
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variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 1531
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variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45319
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.509311546317433e-5
allele num: 66584
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.813192e6

VQSLOD
type: SiteQuality
SIO_000300: -2.459e0

MQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.18e-1

FS
type: SiteQuality
SIO_000300: 1.774e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.884e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeDepth
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28985
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 202
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variant carriers: 0

GenotypeDepth
all individuals: 3
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variant carriers: 0

GenotypeDepth
all individuals: 72
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variant carriers: 0

GenotypeDepth
all individuals: 171
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variant carriers: 1

GenotypeDepth
all individuals: 3065
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variant carriers: 0

GenotypeDepth
all individuals: 72
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variant carriers: 0

GenotypeDepth
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 59
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GenotypeQuality
all individuals: 393
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GenotypeQuality
all individuals: 45285
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 891
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GenotypeQuality
all individuals: 527
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 1505
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GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 382
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GenotypeQuality
all individuals: 1482
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GenotypeQuality
all individuals: 7567
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GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 53
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GenotypeQuality
all individuals: 2363
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.808589e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

FS
type: SiteQuality
SIO_000300: 1.187e0

QD
type: SiteQuality
SIO_000300: 1.181e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.87e-1

GenotypeDepth
all individuals: 72
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
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variant carriers: 0

GenotypeDepth
all individuals: 37
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variant carriers: 0

GenotypeDepth
all individuals: 10239
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variant carriers: 0

GenotypeDepth
all individuals: 46
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variant carriers: 0

GenotypeDepth
all individuals: 45
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variant carriers: 0

GenotypeDepth
all individuals: 650
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variant carriers: 5

GenotypeDepth
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 2362
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variant carriers: 5

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 1508
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GenotypeQuality
all individuals: 7575
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GenotypeQuality
all individuals: 45312
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 530
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GenotypeQuality
all individuals: 41
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GenotypeQuality
all individuals: 23
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GenotypeQuality
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GenotypeQuality
all individuals: 50
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 48
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GenotypeQuality
all individuals: 1477
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.66183574879227e-5
allele num: 10350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01050666827227e-5
allele num: 66434
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.089e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.929e1

DP
type: SiteQuality
SIO_000300: 1.808608e6

MQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

FS
type: SiteQuality
SIO_000300: 5.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

GenotypeDepth
all individuals: 256
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variant carriers: 0

GenotypeDepth
all individuals: 46
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GenotypeDepth
all individuals: 72
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GenotypeDepth
all individuals: 292
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GenotypeDepth
all individuals: 45
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GenotypeDepth
all individuals: 646
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GenotypeDepth
all individuals: 3062
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GenotypeDepth
all individuals: 38
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GenotypeDepth
all individuals: 14643
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 390
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GenotypeQuality
all individuals: 414
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GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 7574
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GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 531
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GenotypeQuality
all individuals: 1475
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GenotypeQuality
all individuals: 2354
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variant carriers: 6

GenotypeQuality
all individuals: 45291
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variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.659969088098918e-5
allele num: 10352
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.531708492754496e-5
allele num: 66386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.438e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.653e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.44e-1

DP
type: SiteQuality
SIO_000300: 1.807555e6

ReadPosRankSum
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FS
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MQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66324
num of homozygotes: 0

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

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

African
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FS
type: SiteQuality
SIO_000300: 9.83e-1

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

Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.507749834147518e-5
allele num: 66324
num of homozygotes: 0

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

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

European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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Other
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ReadPosRankSum
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SIO_000300: -7.87e-1

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

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

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

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 58
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 835
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 495
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GenotypeQuality
all individuals: 1114
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.732501732501733e-4
allele num: 11544
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.528e0

FS
type: SiteQuality
SIO_000300: 1.837e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.476e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.844051e6

GenotypeDepth
all individuals: 544
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1134
bin: 4.25e1
variant carriers: 15

GenotypeDepth
all individuals: 584
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variant carriers: 11

GenotypeDepth
all individuals: 9790
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variant carriers: 15

GenotypeDepth
all individuals: 79
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variant carriers: 34

GenotypeDepth
all individuals: 3018
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variant carriers: 12

GenotypeDepth
all individuals: 67
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variant carriers: 63

GenotypeDepth
all individuals: 14369
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variant carriers: 14

GenotypeDepth
all individuals: 52
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variant carriers: 49

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 1

GenotypeQuality
all individuals: 7334
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variant carriers: 1

GenotypeQuality
all individuals: 35
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variant carriers: 1

GenotypeQuality
all individuals: 44310
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variant carriers: 0

GenotypeQuality
all individuals: 67
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
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variant carriers: 0

GenotypeQuality
all individuals: 2901
bin: 9.75e1
variant carriers: 1475

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 50
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GenotypeQuality
all individuals: 495
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GenotypeQuality
all individuals: 835
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variant carriers: 0

GenotypeQuality
all individuals: 1444
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variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 23
allele frequency: 2.263333989372171e-3
allele num: 10162
num of homozygotes: 0

Latino
type: Population
allele count: 26
allele frequency: 2.252252252252252e-3
allele num: 11544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 157
allele frequency: 2.373752645902631e-2
allele num: 6614
num of homozygotes: 1

South Asian
type: Population
allele count: 51
allele frequency: 3.090159961221522e-3
allele num: 16504
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 1223
allele frequency: 1.857589841732738e-2
allele num: 65838
num of homozygotes: 11

East Asian
type: Population
allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

Other
type: Population
allele count: 10
allele frequency: 1.111111111111111e-2
allele num: 900
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.844051e6

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

FS
type: SiteQuality
SIO_000300: 1.837e0

QD
type: SiteQuality
SIO_000300: 1.476e1

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.528e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e-1

GenotypeDepth
all individuals: 60
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 695
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variant carriers: 0

GenotypeDepth
all individuals: 45
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variant carriers: 0

GenotypeDepth
all individuals: 17
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variant carriers: 7

GenotypeDepth
all individuals: 124
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variant carriers: 0

GenotypeDepth
all individuals: 14697
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variant carriers: 1

GenotypeDepth
all individuals: 3045
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variant carriers: 1

GenotypeDepth
all individuals: 282
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GenotypeDepth
all individuals: 581
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variant carriers: 0

GenotypeDepth
all individuals: 4
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GenotypeDepth
all individuals: 5
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variant carriers: 1

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 117
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GenotypeQuality
all individuals: 120
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 7479
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GenotypeQuality
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GenotypeQuality
all individuals: 1443
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variant carriers: 13

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 841
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variant carriers: 0

GenotypeQuality
all individuals: 45207
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variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527090587013621e-5
allele num: 65484
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

African
type: Population
allele count: 11
allele frequency: 1.095835823869297e-3
allele num: 10038
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.710775e6

VQSLOD
type: SiteQuality
SIO_000300: 5.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

QD
type: SiteQuality
SIO_000300: 1.557e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 21
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14657
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variant carriers: 0

GenotypeDepth
all individuals: 154
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variant carriers: 0

GenotypeDepth
all individuals: 581
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GenotypeDepth
all individuals: 4
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GenotypeDepth
all individuals: 3032
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GenotypeDepth
all individuals: 280
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GenotypeDepth
all individuals: 12
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GenotypeDepth
all individuals: 1113
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variant carriers: 0

GenotypeDepth
all individuals: 60
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variant carriers: 0

GenotypeDepth
all individuals: 45
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GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 840
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GenotypeQuality
all individuals: 1468
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 57
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GenotypeQuality
all individuals: 1429
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variant carriers: 1

GenotypeQuality
all individuals: 115
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GenotypeQuality
all individuals: 24
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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: 7475
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variant carriers: 0

GenotypeQuality
all individuals: 1425
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variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65376
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 8.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

DP
type: SiteQuality
SIO_000300: 1.707263e6

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

QD
type: SiteQuality
SIO_000300: 1.279e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.033e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

GenotypeDepth
all individuals: 3017
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 280
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variant carriers: 0

GenotypeDepth
all individuals: 9907
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variant carriers: 0

GenotypeDepth
all individuals: 28880
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 13
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GenotypeDepth
all individuals: 3
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GenotypeDepth
all individuals: 154
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GenotypeDepth
all individuals: 21
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GenotypeDepth
all individuals: 10
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GenotypeDepth
all individuals: 195
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GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 232
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 45100
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 40
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GenotypeQuality
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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: 1420
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GenotypeQuality
all individuals: 1425
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 502
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variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53275497378989e-5
allele num: 65242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 1.705017e6

QD
type: SiteQuality
SIO_000300: 1.982e1

MQRankSum
type: SiteQuality
SIO_000300: -2.428e0

FS
type: SiteQuality
SIO_000300: 9.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.913e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.41e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

GenotypeDepth
all individuals: 20
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variant carriers: 0

GenotypeDepth
all individuals: 14640
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variant carriers: 0

GenotypeDepth
all individuals: 739
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variant carriers: 0

GenotypeDepth
all individuals: 12
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GenotypeDepth
all individuals: 200
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GenotypeDepth
all individuals: 580
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GenotypeDepth
all individuals: 44
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GenotypeDepth
all individuals: 4
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GenotypeDepth
all individuals: 60
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GenotypeDepth
all individuals: 189
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GenotypeDepth
all individuals: 842
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GenotypeQuality
all individuals: 1426
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GenotypeQuality
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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: 7456
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GenotypeQuality
all individuals: 45135
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GenotypeQuality
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 841
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GenotypeQuality
all individuals: 1299
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 111
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GenotypeQuality
all individuals: 379
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GenotypeQuality
all individuals: 126
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GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 1468
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533130960046607e-5
allele num: 65226
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.73e-1

FS
type: SiteQuality
SIO_000300: 5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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South Asian
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FS
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MQ
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ClippingRankSum
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VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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QD
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ClippingRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Other
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ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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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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Latino
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South Asian
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African
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East Asian
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European (Finnish)
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Other
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InbreedingCoeff
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ReadPosRankSum
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QD
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FS
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DP
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MQ
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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GenotypeQuality
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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South Asian
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East Asian
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DP
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SIO_000300: 1.679042e6

FS
type: SiteQuality
SIO_000300: 4.969e0

QD
type: SiteQuality
SIO_000300: 1.192e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.158e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.44e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.148227712137487e-4
allele num: 9310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63622
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

FS
type: SiteQuality
SIO_000300: 1.805e1

DP
type: SiteQuality
SIO_000300: 1.677585e6

MQ
type: SiteQuality
SIO_000300: 5.91e1

VQSLOD
type: SiteQuality
SIO_000300: -2.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.005e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573910853689247e-5
allele num: 63536
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.207e0

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

DP
type: SiteQuality
SIO_000300: 1.67569e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

QD
type: SiteQuality
SIO_000300: 1.417e1

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
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.580378026423921e-5
allele num: 63276
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 7.865e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.320000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.201e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.295e0

DP
type: SiteQuality
SIO_000300: 1.670155e6

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.585841606140379e-5
allele num: 63058
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9128
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.898e1

BaseQRankSum
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SIO_000300: 2.89e0

ClippingRankSum
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SIO_000300: -1.554e0

GenotypeDepth
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variant carriers: 6

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

Latino
type: Population
allele count: 24
allele frequency: 2.111560795354566e-3
allele num: 11366
num of homozygotes: 0

African
type: Population
allele count: 51
allele frequency: 5.651595744680851e-3
allele num: 9024
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.529519730804527e-4
allele num: 6538
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.845926655180901e-4
allele num: 16252
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
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allele count: 13
allele frequency: 2.076345631688229e-4
allele num: 62610
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.283e1

DP
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.7e-1

BaseQRankSum
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SIO_000300: -1.508e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.596315015034226e-5
allele num: 62524
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
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InbreedingCoeff
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SIO_000300: -2.1e-3

BaseQRankSum
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QD
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MQRankSum
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SIO_000300: -1.88e-1

FS
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SIO_000300: 1.486e0

ClippingRankSum
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SIO_000300: -3.1e-1

DP
type: SiteQuality
SIO_000300: 1.649638e6

ReadPosRankSum
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SIO_000300: 3.7e-1

GenotypeDepth
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variant carriers: 0

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

Latino
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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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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.601691386103726e-5
allele num: 62434
num of homozygotes: 0

ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.852e1

DP
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QD
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SIO_000300: 2.083e1

MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6498
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8962
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.209242618741977e-5
allele num: 62320
num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: 4.5e-3

MQ
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SIO_000300: 5.976e1

MQRankSum
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SIO_000300: 5.48e-1

DP
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SIO_000300: 1.642845e6

QD
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SIO_000300: 1.476e1

ReadPosRankSum
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FS
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SIO_000300: 1.556e0

VQSLOD
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SIO_000300: 8.29e-1

BaseQRankSum
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SIO_000300: -2.93e0

ClippingRankSum
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SIO_000300: 2.5e-2

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

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 62076
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MQRankSum
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ClippingRankSum
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DP
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: -2.59e-1

QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele num: 6340
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Latino
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
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QD
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VQSLOD
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MQ
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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Latino
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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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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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BaseQRankSum
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QD
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66714
num of homozygotes: 0

European (Finnish)
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Other
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South Asian
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East Asian
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Latino
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African
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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QD
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BaseQRankSum
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