10-104474011-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474011
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474011
    reference: chr 10
allele count: 1
allele frequency: 9.678293523285975e-6
allele num: 103324
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.3+19G>C
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 708
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8328
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11078
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/10-104474014-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474014
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474014
    reference: chr 10
allele count: 1
allele frequency: 9.719873252852783e-6
allele num: 102882
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.3+16T>G
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8354
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6660
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 706
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 59112
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6204
  num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/10-104474021-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474021
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474021
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 102254
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.3+9G>T
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8282
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8584
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10976
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

10-104474029-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474029
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474029
    reference: chr 10
allele count: 1
allele frequency: 9.962342345932375e-6
allele num: 100378
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.3+1G>A
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 240
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  variant carriers: 0
hgvs: c.3+1G>A
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8492
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.733522865166592e-5
  allele num: 57686
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ

10-104474032-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474032
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474032
    reference: chr 10
allele count: 1
allele frequency: 1.022473978037259e-5
allele num: 97802
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: start_lost
  consequence: splice_region_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.1A>G
  hgvsp: ENSP00000260746.4:p.Met1?
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8569
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15134
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3751
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.197604790419162e-4
  allele num: 8350
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 56384
  num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

10-104474042-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474042
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474042
    reference: chr 10
allele count: 12
allele frequency: 1.213886865744113e-4
allele num: 98856
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.-10C>T
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13857
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3895
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5836
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8542
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8282
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

10-104474044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474044
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474044
    reference: chr 10
allele count: 1
allele frequency: 1.027981660807171e-5
allele num: 97278
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.-12C>T
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5433
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5606
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.788141048565911e-5
  allele num: 55924
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8502
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

10-104474046-C-CCCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474046
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474049
    reference: chr 10
allele count: 49
allele frequency: 5.555555555555556e-4
allele num: 88200
alternate allele: CCCT
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.-17_-15dupAGG
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14982
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9256
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 9305
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3928
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9575
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 737
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 494
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genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 12
  allele frequency: 2.357008170961659e-4
  allele num: 50912
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5032
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7278
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

10-104474046-CCCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474046
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474043
    reference: chr 10
allele count: 10186
allele frequency: 1.154875283446712e-1
allele num: 88200
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.-17_-15delAGG
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 2.5e0
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 9256
  bin: 1.75e1
  variant carriers: 3219
genotype depth: GenotypeDepth
  all individuals: 14982
  bin: 1.25e1
  variant carriers: 3303
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 2.25e1
  variant carriers: 1916
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 7.5e0
  variant carriers: 1314
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 3.25e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 9305
  bin: 2.75e1
  variant carriers: 752
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
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  variant carriers: 12
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 9575
  bin: 6.25e1
  variant carriers: 126
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 1.75e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 11315
  bin: 2.25e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 6.75e1
  variant carriers: 116
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 103
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 7.5e0
  variant carriers: 30
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 4.25e1
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 7.25e1
  variant carriers: 133
genotype quality: GenotypeQuality
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  variant carriers: 148
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 5.25e1
  variant carriers: 108
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.25e1
  variant carriers: 80
genotype quality: GenotypeQuality
  all individuals: 4016
  bin: 2.75e1
  variant carriers: 110
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 1.25e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 9895
  bin: 9.75e1
  variant carriers: 9212
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 7.75e1
  variant carriers: 136
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 4.75e1
  variant carriers: 120
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.75e1
  variant carriers: 113
genotype quality: GenotypeQuality
  all individuals: 3928
  bin: 3.25e1
  variant carriers: 130
num of homozygotes: 573
population: European (Non-Finnish)
  type: Population
  allele count: 7296
  allele frequency: 1.433060967944689e-1
  allele num: 50912
  num of homozygotes: 426
population: African
  type: Population
  allele count: 208
  allele frequency: 2.653738198520031e-2
  allele num: 7838
  num of homozygotes: 2
population: Latino
  type: Population
  allele count: 510
  allele frequency: 5.556766179995642e-2
  allele num: 9178
  num of homozygotes: 11
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: CCCT
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

10-104474046-CCCTCCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474046
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474040
    reference: chr 10
allele count: 12
allele frequency: 1.360544217687075e-4
allele num: 88200
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.-20_-15delAGGAGG
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9256
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9305
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14982
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9895
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4016
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9575
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3928
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.275835672365399e-4
  allele num: 7838
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 2
  allele frequency: 2.71370420624152e-4
  allele num: 7370
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 592
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: CCCTCCT
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

10-104474057-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474057
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474057
    reference: chr 10
allele count: 1
allele frequency: 1.090821825163078e-5
allele num: 91674
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.-25G>A
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17039
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6555
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5709
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.25250501002004e-4
  allele num: 7984
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7552
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 52964
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

10-104474059-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474059
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474059
    reference: chr 10
allele count: 2
allele frequency: 2.198913736614113e-5
allele num: 90954
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.-27G>C
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9599
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19465
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7002
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5954
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3878
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10901
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17082
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1992
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genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7508
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7936
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 606
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

10-104474067-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474067
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474067
    reference: chr 10
allele count: 1
allele frequency: 1.147420598494584e-5
allele num: 87152
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.-35A>G
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8075
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3486
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4809
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
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genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7629
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7280
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7620
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9130
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

10-104474070-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474070
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474070
    reference: chr 10
allele count: 1
allele frequency: 1.172140563096326e-5
allele num: 85314
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.-38A>G
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19859
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 3569
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 287
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 73
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 5215
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 587
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8886
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7172
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.027246188777165e-5
  allele num: 49328
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

10-104474071-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474071
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474071
    reference: chr 10
allele count: 1
allele frequency: 1.186633757357129e-5
allele num: 84272
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.-39C>T
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 39
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6176
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genotype quality: GenotypeQuality
  all individuals: 77
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genotype quality: GenotypeQuality
  all individuals: 163
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genotype quality: GenotypeQuality
  all individuals: 1894
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 301
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 280
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genotype quality: GenotypeQuality
  all individuals: 1392
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genotype quality: GenotypeQuality
  all individuals: 73
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genotype quality: GenotypeQuality
  all individuals: 839
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genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7082
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8740
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.052713687494868e-5
  allele num: 48716
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/10-104474072-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474072
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474072
    reference: chr 10
allele count: 1
allele frequency: 1.179106237471996e-5
allele num: 84810
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.-40G>T
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 73
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
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  allele num: 7084
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 556
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8806
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

10-104474074-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474074
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474073
    reference: chr 10
allele count: 1
allele frequency: 1.20615622135379e-5
allele num: 82908
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.-43delG
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10312
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 19515
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 291
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6888
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4632
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7310
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: TC
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

10-104474077-CCCGTTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474077
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474071
    reference: chr 10
allele count: 1
allele frequency: 1.209716442465886e-5
allele num: 82664
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.-51_-46delTAACGG
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10814
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3656
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.087857023551027e-5
  allele num: 47896
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8544
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4578
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
reference allele: CCCGTTA
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

10-104474079-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474079
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474078
    reference: chr 10
allele count: 1
allele frequency: 1.222583563586571e-5
allele num: 81794
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.-48delC
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4552
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8440
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.384274640088594e-4
  allele num: 7224
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: CG
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

10-104474082-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474082
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474082
    reference: chr 10
allele count: 1
allele frequency: 1.231011645370165e-5
allele num: 81234
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.-50A>T
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
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  allele frequency: 2.124585705787371e-5
  allele num: 47068
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population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6804
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7188
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

10-104474082-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474082
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474082
    reference: chr 10
allele count: 1
allele frequency: 1.231011645370165e-5
allele num: 81234
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.-50A>G
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
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  allele num: 7188
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population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6804
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.124585705787371e-5
  allele num: 47068
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/10-104474083-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104474083
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104474083
    reference: chr 10
allele count: 2
allele frequency: 2.524806221122529e-5
allele num: 79214
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138175
  ensembl protein: ENSP00000260746
  ensembl transcript: ENST00000260746
  gene symbol: ARL3
  hgvsc: ENST00000260746.5:c.-51T>G
  variant of: http://identifiers.org/hgnc/694
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12856
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7891
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7060
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6666
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 4.35369410945187e-5
  allele num: 45938
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

10-104476094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104476094
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104476094
    reference: chr 10
allele count: 51
allele frequency: 9.807692307692307e-1
allele num: 52
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-123-277C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.47-277C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-148-252C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-26+1656C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.2+8C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.-165-277C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-26+1009C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.-33+1656C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.23+1656C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-26+1656C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-123-277C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.81+1656C>T
  variant of: http://identifiers.org/hgnc/16086
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 2.5e0
  variant carriers: 961
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 438
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2+8C>T
num of homozygotes: 25
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/10-104476095-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104476095
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104476095
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 32
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.81+1657C>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-26+1657C>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.23+1657C>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-26+1010C>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-148-251C>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.-33+1657C>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.2+9C>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.47-276C>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.-165-276C>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-123-276C>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-123-276C>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-26+1657C>A
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff

10-104477491-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104477491
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104477491
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 8
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-26+1023C>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.2+1405C>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-26+2406C>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.-33+3053C>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.-36C>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.176C>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-26+3053C>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.81+3053C>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-26+3053C>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.23+3053C>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-26+1023C>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-26+1023C>G
  variant of: http://identifiers.org/hgnc/16086
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

10-104484685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104484685
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104484685
    reference: chr 10
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.223-1684C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.82-1684C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.24-1684C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.3-1684C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-25-1684C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-25-1684C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.-32-8C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-25-1684C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-25-1684C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-25-1684C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.12-1684C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-25-1684C>T
  variant of: http://identifiers.org/hgnc/16086
canonical: false
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-32-8C>T
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

10-104484783-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104484783
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104484783
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 4
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-25-1586A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-25-1586A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-25-1586A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.12-1586A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.223-1586A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.82-1586A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-25-1586A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-25-1586A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.3-1586A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.24-1586A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.29+30A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-25-1586A>G
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS

10-104484799-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104484799
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104484799
    reference: chr 10
allele count: 1
allele frequency: 2.5e-1
allele num: 4
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.24-1570A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-25-1570A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-25-1570A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.82-1570A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-25-1570A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-25-1570A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.12-1570A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.223-1570A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.29+46A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-25-1570A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-25-1570A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.3-1570A>G
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 2.5e0
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

10-104486321-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486321
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486321
    reference: chr 10
allele count: 1
allele frequency: 8.779785422044285e-6
allele num: 113898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.24-48G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-25-48G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.82-48G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-25-48G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.-73G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-25-48G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-25-48G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.30-48G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.223-48G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-25-48G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.3-48G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-25-48G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.12-48G>A
  variant of: http://identifiers.org/hgnc/16086
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

10-104486322-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486322
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486322
    reference: chr 10
allele count: 2
allele frequency: 1.755525516563383e-5
allele num: 113926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-25-47G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-25-47G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-25-47G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.24-47G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-25-47G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.-72G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.3-47G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.30-47G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.82-47G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.12-47G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-25-47G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-25-47G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.223-47G>A
  variant of: http://identifiers.org/hgnc/16086
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13312
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

10-104486325-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486325
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486325
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 113980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-25-44G>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.30-44G>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.12-44G>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-25-44G>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-25-44G>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-25-44G>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.3-44G>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.82-44G>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-25-44G>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.-69G>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.24-44G>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.223-44G>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-25-44G>T
  variant of: http://identifiers.org/hgnc/16086
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

10-104486327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486327
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486327
    reference: chr 10
allele count: 1
allele frequency: 8.77531678893608e-6
allele num: 113956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.82-42C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-25-42C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-25-42C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.30-42C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-25-42C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-25-42C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-25-42C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.12-42C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.-67C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.223-42C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.24-42C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.3-42C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-25-42C>T
  variant of: http://identifiers.org/hgnc/16086
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

10-104486336-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486336
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486336
    reference: chr 10
allele count: 6
allele frequency: 5.247691015952981e-5
allele num: 114336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.24-33A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.-58A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.12-33A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-25-33A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.82-33A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.30-33A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-25-33A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.3-33A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-25-33A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-25-33A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-25-33A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.223-33A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-25-33A>T
  variant of: http://identifiers.org/hgnc/16086
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/10-104486341-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486341
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486341
    reference: chr 10
allele count: 4
allele frequency: 3.487054310870892e-5
allele num: 114710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-25-28A>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.24-28A>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.30-28A>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.223-28A>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-25-28A>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-25-28A>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.3-28A>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.82-28A>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.-53A>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-25-28A>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-25-28A>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-25-28A>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.12-28A>C
  variant of: http://identifiers.org/hgnc/16086
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

10-104486341-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486341
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486341
    reference: chr 10
allele count: 1
allele frequency: 8.717635777177229e-6
allele num: 114710
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-25-28A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.223-28A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.24-28A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-25-28A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-25-28A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.30-28A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-25-28A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-25-28A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.82-28A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-25-28A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.-53A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.3-28A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.12-28A>G
  variant of: http://identifiers.org/hgnc/16086
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

10-104486347-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486347
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486347
    reference: chr 10
allele count: 2
allele frequency: 1.730283420424266e-5
allele num: 115588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.-47A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-25-22A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.223-22A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.82-22A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-25-22A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.24-22A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-25-22A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.3-22A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.12-22A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-25-22A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.30-22A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-25-22A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-25-22A>G
  variant of: http://identifiers.org/hgnc/16086
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

10-104486347-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486347
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486347
    reference: chr 10
allele count: 1
allele frequency: 8.651417102121328e-6
allele num: 115588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-25-22A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.-47A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-25-22A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.223-22A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-25-22A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.3-22A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.12-22A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.82-22A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-25-22A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-25-22A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.24-22A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-25-22A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.30-22A>T
  variant of: http://identifiers.org/hgnc/16086
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

10-104486363-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486363
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486363
    reference: chr 10
allele count: 1
allele frequency: 8.450085345861994e-6
allele num: 118342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.12-6C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.3-6C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.82-6C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-25-6C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-25-6C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-25-6C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.24-6C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.30-6C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-25-6C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-25-6C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.-31C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-25-6C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.223-6C>T
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-25-6C>T
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

10-104486365-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486365
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486365
    reference: chr 10
allele count: 1
allele frequency: 8.41779184484326e-6
allele num: 118796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.3-4T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.223-4T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.12-4T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.-29T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-25-4T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-25-4T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-25-4T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.30-4T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-25-4T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.82-4T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-25-4T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-25-4T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.24-4T>C
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12145
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-25-4T>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

10-104486381-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486381
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486381
    reference: chr 10
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-13A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.15A>T
  hgvsp: ENSP00000473578.1:p.Leu5Phe
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-13A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.36A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.-13A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.24A>T
  hgvsp: ENSP00000473392.1:p.Leu8Phe
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-13A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.94A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-13A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-13A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.42A>T
  hgvsp: ENSP00000473325.1:p.Leu14Phe
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.235A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-13A>T
  variant of: http://identifiers.org/hgnc/16086
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu5Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

10-104486384-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486384
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486384
    reference: chr 10
allele count: 4
allele frequency: 3.3101621979477e-5
allele num: 120840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.45T>C
  hgvsp: ENST00000459894.2:c.45T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-10T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-10T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-10T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.39T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.-10T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.27T>C
  hgvsp: ENST00000602647.1:c.27T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-10T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-10T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.18T>C
  hgvsp: ENST00000602439.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.238T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.97T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-10T>C
  variant of: http://identifiers.org/hgnc/16086
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys6Cys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

10-104486387-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486387
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486387
    reference: chr 10
allele count: 3
allele frequency: 2.480815030431331e-5
allele num: 120928
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.-7G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.241G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.-7G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.48G>A
  hgvsp: ENST00000459894.2:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.21G>A
  hgvsp: ENST00000602439.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.100G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.30G>A
  hgvsp: ENST00000602647.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.42G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/16086
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val7Val
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

10-104486399-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486399
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486399
    reference: chr 10
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.6G>T
  hgvsp: ENSP00000473329.1:p.Glu2Asp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.54G>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.6G>T
  hgvsp: ENSP00000473573.1:p.Glu2Asp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.253G>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.6G>T
  hgvsp: ENSP00000473504.1:p.Glu2Asp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.6G>T
  hgvsp: ENSP00000473316.1:p.Glu2Asp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.6G>T
  hgvsp: ENSP00000473374.1:p.Glu2Asp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.6G>T
  hgvsp: ENSP00000358909.4:p.Glu2Asp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.6G>T
  hgvsp: ENSP00000473518.1:p.Glu2Asp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.33G>T
  hgvsp: ENSP00000473578.1:p.Glu11Asp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.42G>T
  hgvsp: ENSP00000473392.1:p.Glu14Asp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.60G>T
  hgvsp: ENSP00000473325.1:p.Glu20Asp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.112G>T
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu2Asp
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

10-104486407-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486407
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486407
    reference: chr 10
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.14T>C
  hgvsp: ENSP00000473329.1:p.Leu5Pro
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.14T>C
  hgvsp: ENSP00000473316.1:p.Leu5Pro
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.14T>C
  hgvsp: ENSP00000473518.1:p.Leu5Pro
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.120T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.14T>C
  hgvsp: ENSP00000473573.1:p.Leu5Pro
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.62T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.14T>C
  hgvsp: ENSP00000473504.1:p.Leu5Pro
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.14T>C
  hgvsp: ENSP00000473374.1:p.Leu5Pro
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.14T>C
  hgvsp: ENSP00000358909.4:p.Leu5Pro
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.50T>C
  hgvsp: ENSP00000473392.1:p.Leu17Pro
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.68T>C
  hgvsp: ENSP00000473325.1:p.Leu23Pro
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.261T>C
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.41T>C
  hgvsp: ENSP00000473578.1:p.Leu14Pro
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu5Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

10-104486408-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486408
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486408
    reference: chr 10
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.15G>A
  hgvsp: ENST00000369893.5:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.69G>A
  hgvsp: ENST00000459894.2:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.15G>A
  hgvsp: ENST00000480358.2:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.262G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.15G>A
  hgvsp: ENST00000602670.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473392
  ensembl transcript: ENST00000602647
  gene symbol: SFXN2
  hgvsc: ENST00000602647.1:c.51G>A
  hgvsp: ENST00000602647.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.121G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.15G>A
  hgvsp: ENST00000602831.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.42G>A
  hgvsp: ENST00000602439.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.15G>A
  hgvsp: ENST00000602764.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.63G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.15G>A
  hgvsp: ENST00000602868.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.15G>A
  hgvsp: ENST00000602544.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu5Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

10-104486414-CTTTAACA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486414
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486407
    reference: chr 10
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.270_276delTTAACAT
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.50_56delTTAACAT
  hgvsp: ENSP00000473578.1:p.Phe17SerfsTer15
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.129_135delTTAACAT
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.77_83delTTAACAT
  hgvsp: ENSP00000473325.1:p.Phe26SerfsTer15
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.23_29delTTAACAT
  hgvsp: ENSP00000473518.1:p.Phe8SerfsTer15
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.23_29delTTAACAT
  hgvsp: ENSP00000358909.4:p.Phe8SerfsTer15
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.23_29delTTAACAT
  hgvsp: ENSP00000473316.1:p.Phe8SerfsTer15
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.23_29delTTAACAT
  hgvsp: ENSP00000473329.1:p.Phe8SerfsTer15
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.23_29delTTAACAT
  hgvsp: ENSP00000473374.1:p.Phe8SerfsTer15
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.23_29delTTAACAT
  hgvsp: ENSP00000473504.1:p.Phe8SerfsTer15
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.23_29delTTAACAT
  hgvsp: ENSP00000473573.1:p.Phe8SerfsTer15
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.71_77delTTAACAT
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe8SerfsTer15
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: CTTTAACA
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

10-104486420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486420
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486420
    reference: chr 10
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.133C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.75C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.274C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.27C>T
  hgvsp: ENST00000369893.5:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.27C>T
  hgvsp: ENST00000602544.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.54C>T
  hgvsp: ENST00000602439.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.27C>T
  hgvsp: ENST00000602670.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.27C>T
  hgvsp: ENST00000602764.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.27C>T
  hgvsp: ENST00000602868.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.81C>T
  hgvsp: ENST00000459894.2:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.27C>T
  hgvsp: ENST00000480358.2:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.27C>T
  hgvsp: ENST00000602831.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn9Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

10-104486423-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486423
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486423
    reference: chr 10
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.78C>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.277C>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.30C>G
  hgvsp: ENSP00000358909.4:p.Ile10Met
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.30C>G
  hgvsp: ENSP00000473504.1:p.Ile10Met
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.30C>G
  hgvsp: ENSP00000473329.1:p.Ile10Met
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.57C>G
  hgvsp: ENSP00000473578.1:p.Ile19Met
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.30C>G
  hgvsp: ENSP00000473518.1:p.Ile10Met
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.84C>G
  hgvsp: ENSP00000473325.1:p.Ile28Met
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.30C>G
  hgvsp: ENSP00000473573.1:p.Ile10Met
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.30C>G
  hgvsp: ENSP00000473316.1:p.Ile10Met
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.30C>G
  hgvsp: ENSP00000473374.1:p.Ile10Met
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.136C>G
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile10Met
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

10-104486423-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486423
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486423
    reference: chr 10
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.78C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.57C>T
  hgvsp: ENST00000602439.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.84C>T
  hgvsp: ENST00000459894.2:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.30C>T
  hgvsp: ENST00000602670.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.30C>T
  hgvsp: ENST00000602764.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.30C>T
  hgvsp: ENST00000602868.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.30C>T
  hgvsp: ENST00000602831.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.30C>T
  hgvsp: ENST00000369893.5:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.136C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.30C>T
  hgvsp: ENST00000602544.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.30C>T
  hgvsp: ENST00000480358.2:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.277C>T
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile10Ile
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

10-104486433-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486433
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486433
    reference: chr 10
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.67C>T
  hgvsp: ENSP00000473578.1:p.Arg23Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.40C>T
  hgvsp: ENSP00000473504.1:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.40C>T
  hgvsp: ENSP00000473329.1:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.40C>T
  hgvsp: ENSP00000473518.1:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.40C>T
  hgvsp: ENSP00000358909.4:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.40C>T
  hgvsp: ENSP00000473316.1:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.40C>T
  hgvsp: ENSP00000473573.1:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.94C>T
  hgvsp: ENSP00000473325.1:p.Arg32Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.88C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.146C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.287C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.40C>T
  hgvsp: ENSP00000473374.1:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg14Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

10-104486434-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486434
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486434
    reference: chr 10
allele count: 5
allele frequency: 4.118480445454845e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.95G>A
  hgvsp: ENSP00000473325.1:p.Arg32His
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.41G>A
  hgvsp: ENSP00000473518.1:p.Arg14His
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.147G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.89G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.68G>A
  hgvsp: ENSP00000473578.1:p.Arg23His
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.41G>A
  hgvsp: ENSP00000358909.4:p.Arg14His
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.41G>A
  hgvsp: ENSP00000473504.1:p.Arg14His
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.288G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.41G>A
  hgvsp: ENSP00000473316.1:p.Arg14His
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.41G>A
  hgvsp: ENSP00000473329.1:p.Arg14His
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.41G>A
  hgvsp: ENSP00000473374.1:p.Arg14His
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.41G>A
  hgvsp: ENSP00000473573.1:p.Arg14His
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg14His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

10-104486439-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486439
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486439
    reference: chr 10
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.100G>T
  hgvsp: ENSP00000473325.1:p.Asp34Tyr
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.94G>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.46G>T
  hgvsp: ENSP00000473316.1:p.Asp16Tyr
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.46G>T
  hgvsp: ENSP00000473504.1:p.Asp16Tyr
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.46G>T
  hgvsp: ENSP00000473374.1:p.Asp16Tyr
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.152G>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.46G>T
  hgvsp: ENSP00000473518.1:p.Asp16Tyr
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.293G>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.46G>T
  hgvsp: ENSP00000473329.1:p.Asp16Tyr
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.46G>T
  hgvsp: ENSP00000358909.4:p.Asp16Tyr
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.46G>T
  hgvsp: ENSP00000473573.1:p.Asp16Tyr
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.73G>T
  hgvsp: ENSP00000473578.1:p.Asp25Tyr
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp16Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD

10-104486440-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486440
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486440
    reference: chr 10
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.47A>T
  hgvsp: ENSP00000473374.1:p.Asp16Val
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.47A>T
  hgvsp: ENSP00000473316.1:p.Asp16Val
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.153A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.47A>T
  hgvsp: ENSP00000473518.1:p.Asp16Val
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.47A>T
  hgvsp: ENSP00000473329.1:p.Asp16Val
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.47A>T
  hgvsp: ENSP00000473504.1:p.Asp16Val
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.101A>T
  hgvsp: ENSP00000473325.1:p.Asp34Val
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.47A>T
  hgvsp: ENSP00000358909.4:p.Asp16Val
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.47A>T
  hgvsp: ENSP00000473573.1:p.Asp16Val
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.294A>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.74A>T
  hgvsp: ENSP00000473578.1:p.Asp25Val
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.95A>T
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp16Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

10-104486444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486444
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486444
    reference: chr 10
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.51G>A
  hgvsp: ENST00000369893.5:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.78G>A
  hgvsp: ENST00000602439.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.99G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.51G>A
  hgvsp: ENST00000602544.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.51G>A
  hgvsp: ENST00000602670.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.51G>A
  hgvsp: ENST00000602868.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.51G>A
  hgvsp: ENST00000602831.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.51G>A
  hgvsp: ENST00000602764.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.51G>A
  hgvsp: ENST00000480358.2:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.105G>A
  hgvsp: ENST00000459894.2:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.298G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.157G>A
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln17Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

10-104486445-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486445
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486445
    reference: chr 10
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.158C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.52C>T
  hgvsp: ENSP00000473316.1:p.Arg18Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.52C>T
  hgvsp: ENSP00000473518.1:p.Arg18Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.100C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.299C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.52C>T
  hgvsp: ENSP00000473374.1:p.Arg18Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.106C>T
  hgvsp: ENSP00000473325.1:p.Arg36Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.52C>T
  hgvsp: ENSP00000473329.1:p.Arg18Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.79C>T
  hgvsp: ENSP00000473578.1:p.Arg27Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.52C>T
  hgvsp: ENSP00000473504.1:p.Arg18Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.52C>T
  hgvsp: ENSP00000473573.1:p.Arg18Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.52C>T
  hgvsp: ENSP00000358909.4:p.Arg18Cys
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg18Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

10-104486446-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486446
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486446
    reference: chr 10
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.53G>A
  hgvsp: ENSP00000473329.1:p.Arg18His
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.80G>A
  hgvsp: ENSP00000473578.1:p.Arg27His
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.300G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.159G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.101G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.53G>A
  hgvsp: ENSP00000473573.1:p.Arg18His
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.53G>A
  hgvsp: ENSP00000473316.1:p.Arg18His
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.53G>A
  hgvsp: ENSP00000473504.1:p.Arg18His
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.53G>A
  hgvsp: ENSP00000473374.1:p.Arg18His
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.53G>A
  hgvsp: ENSP00000473518.1:p.Arg18His
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.107G>A
  hgvsp: ENSP00000473325.1:p.Arg36His
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.53G>A
  hgvsp: ENSP00000358909.4:p.Arg18His
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg18His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

10-104486447-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486447
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486447
    reference: chr 10
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.54C>T
  hgvsp: ENST00000602764.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.54C>T
  hgvsp: ENST00000602868.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.301C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.54C>T
  hgvsp: ENST00000602670.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.102C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.54C>T
  hgvsp: ENST00000602544.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.54C>T
  hgvsp: ENST00000602831.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.54C>T
  hgvsp: ENST00000480358.2:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.54C>T
  hgvsp: ENST00000369893.5:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.160C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.108C>T
  hgvsp: ENST00000459894.2:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.81C>T
  hgvsp: ENST00000602439.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg18Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

10-104486474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486474
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486474
    reference: chr 10
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.81C>T
  hgvsp: ENST00000602670.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.135C>T
  hgvsp: ENST00000459894.2:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.187C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.129C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.81C>T
  hgvsp: ENST00000602544.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.81C>T
  hgvsp: ENST00000602868.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.81C>T
  hgvsp: ENST00000602831.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.81C>T
  hgvsp: ENST00000369893.5:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.81C>T
  hgvsp: ENST00000602764.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.108C>T
  hgvsp: ENST00000602439.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.81C>T
  hgvsp: ENST00000480358.2:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.328C>T
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe27Phe
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

10-104486476-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486476
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486475
    reference: chr 10
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.192delA
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.86delA
  hgvsp: ENSP00000473329.1:p.Asn29ThrfsTer78
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.86delA
  hgvsp: ENSP00000473518.1:p.Asn29ThrfsTer20
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.140delA
  hgvsp: ENSP00000473325.1:p.Asn47ThrfsTer20
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.113delA
  hgvsp: ENSP00000473578.1:p.Asn38ThrfsTer20
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.86delA
  hgvsp: ENSP00000358909.4:p.Asn29ThrfsTer20
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.86delA
  hgvsp: ENSP00000473316.1:p.Asn29ThrfsTer20
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.86delA
  hgvsp: ENSP00000473504.1:p.Asn29ThrfsTer20
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.134delA
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.86delA
  hgvsp: ENSP00000473374.1:p.Asn29ThrfsTer20
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.333delA
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.86delA
  hgvsp: ENSP00000473573.1:p.Asn29ThrfsTer20
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn29ThrfsTer20
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: TA
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

10-104486485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486485
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486485
    reference: chr 10
allele count: 20
allele frequency: 1.647419317638919e-4
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.198C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.92C>T
  hgvsp: ENSP00000358909.4:p.Thr31Met
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.92C>T
  hgvsp: ENSP00000473374.1:p.Thr31Met
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.92C>T
  hgvsp: ENSP00000473573.1:p.Thr31Met
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.92C>T
  hgvsp: ENSP00000473504.1:p.Thr31Met
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.146C>T
  hgvsp: ENSP00000473325.1:p.Thr49Met
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.92C>T
  hgvsp: ENSP00000473518.1:p.Thr31Met
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.92C>T
  hgvsp: ENSP00000473329.1:p.Thr31Met
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.140C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.339C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.92C>T
  hgvsp: ENSP00000473316.1:p.Thr31Met
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.119C>T
  hgvsp: ENSP00000473578.1:p.Thr40Met
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr31Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

10-104486486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486486
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486486
    reference: chr 10
allele count: 9
allele frequency: 7.413386929375134e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.120G>A
  hgvsp: ENST00000602439.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.93G>A
  hgvsp: ENST00000602764.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.340G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.93G>A
  hgvsp: ENST00000369893.5:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.93G>A
  hgvsp: ENST00000602544.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.147G>A
  hgvsp: ENST00000459894.2:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.141G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.93G>A
  hgvsp: ENST00000480358.2:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.93G>A
  hgvsp: ENST00000602831.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.93G>A
  hgvsp: ENST00000602670.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.93G>A
  hgvsp: ENST00000602868.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.199G>A
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr31Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

10-104486487-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486487
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486487
    reference: chr 10
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.94G>A
  hgvsp: ENSP00000473374.1:p.Asp32Asn
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.121G>A
  hgvsp: ENSP00000473578.1:p.Asp41Asn
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.94G>A
  hgvsp: ENSP00000473316.1:p.Asp32Asn
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.94G>A
  hgvsp: ENSP00000473573.1:p.Asp32Asn
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.341G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.94G>A
  hgvsp: ENSP00000473518.1:p.Asp32Asn
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.142G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.94G>A
  hgvsp: ENSP00000473504.1:p.Asp32Asn
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.94G>A
  hgvsp: ENSP00000358909.4:p.Asp32Asn
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.94G>A
  hgvsp: ENSP00000473329.1:p.Asp32Asn
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.148G>A
  hgvsp: ENSP00000473325.1:p.Asp50Asn
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.200G>A
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13731
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp32Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/10-104486489-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486489
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486489
    reference: chr 10
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.150C>A
  hgvsp: ENSP00000473325.1:p.Asp50Glu
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.96C>A
  hgvsp: ENSP00000473518.1:p.Asp32Glu
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.343C>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.202C>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.96C>A
  hgvsp: ENSP00000358909.4:p.Asp32Glu
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.96C>A
  hgvsp: ENSP00000473573.1:p.Asp32Glu
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.96C>A
  hgvsp: ENSP00000473504.1:p.Asp32Glu
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.96C>A
  hgvsp: ENSP00000473316.1:p.Asp32Glu
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.96C>A
  hgvsp: ENSP00000473374.1:p.Asp32Glu
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.96C>A
  hgvsp: ENSP00000473329.1:p.Asp32Glu
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.123C>A
  hgvsp: ENSP00000473578.1:p.Asp41Glu
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.144C>A
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp32Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

10-104486489-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486489
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486489
    reference: chr 10
allele count: 717
allele frequency: 5.905998253735523e-3
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.202C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.96C>T
  hgvsp: ENST00000602831.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.144C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.150C>T
  hgvsp: ENST00000459894.2:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.96C>T
  hgvsp: ENST00000602868.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.96C>T
  hgvsp: ENST00000602764.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.343C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.96C>T
  hgvsp: ENST00000602670.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.96C>T
  hgvsp: ENST00000602544.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.96C>T
  hgvsp: ENST00000480358.2:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.96C>T
  hgvsp: ENST00000369893.5:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.123C>T
  hgvsp: ENST00000602439.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 22905
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 12952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 13631
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: p.Asp32Asp
num of homozygotes: 25
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

10-104486490-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486490
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486490
    reference: chr 10
allele count: 5
allele frequency: 4.118616144975288e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.124C>G
  hgvsp: ENSP00000473578.1:p.Pro42Ala
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.97C>G
  hgvsp: ENSP00000473374.1:p.Pro33Ala
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.97C>G
  hgvsp: ENSP00000473329.1:p.Pro33Ala
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.97C>G
  hgvsp: ENSP00000358909.4:p.Pro33Ala
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.145C>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.97C>G
  hgvsp: ENSP00000473573.1:p.Pro33Ala
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.97C>G
  hgvsp: ENSP00000473504.1:p.Pro33Ala
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.203C>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.97C>G
  hgvsp: ENSP00000473518.1:p.Pro33Ala
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.151C>G
  hgvsp: ENSP00000473325.1:p.Pro51Ala
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.97C>G
  hgvsp: ENSP00000473316.1:p.Pro33Ala
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.344C>G
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13794
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro33Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

10-104486493-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486493
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486493
    reference: chr 10
allele count: 31
allele frequency: 2.553584078815137e-4
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.100C>T
  hgvsp: ENSP00000473504.1:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.100C>T
  hgvsp: ENSP00000473374.1:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.148C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.100C>T
  hgvsp: ENSP00000473573.1:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.127C>T
  hgvsp: ENSP00000473578.1:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.206C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.100C>T
  hgvsp: ENSP00000473518.1:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.100C>T
  hgvsp: ENSP00000473329.1:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.347C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.100C>T
  hgvsp: ENSP00000358909.4:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.100C>T
  hgvsp: ENSP00000473316.1:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.154C>T
  hgvsp: ENSP00000473325.1:p.Arg52Cys
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
hgvs: p.Arg34Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum

10-104486496-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486496
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486496
    reference: chr 10
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.103A>G
  hgvsp: ENSP00000473518.1:p.Thr35Ala
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.209A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.103A>G
  hgvsp: ENSP00000473329.1:p.Thr35Ala
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.103A>G
  hgvsp: ENSP00000473374.1:p.Thr35Ala
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.103A>G
  hgvsp: ENSP00000473573.1:p.Thr35Ala
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.103A>G
  hgvsp: ENSP00000358909.4:p.Thr35Ala
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.130A>G
  hgvsp: ENSP00000473578.1:p.Thr44Ala
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.151A>G
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.103A>G
  hgvsp: ENSP00000473504.1:p.Thr35Ala
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.157A>G
  hgvsp: ENSP00000473325.1:p.Thr53Ala
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.103A>G
  hgvsp: ENSP00000473316.1:p.Thr35Ala
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.350A>G
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr35Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

10-104486514-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486514
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486514
    reference: chr 10
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.121C>T
  hgvsp: ENSP00000473518.1:p.Arg41Trp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.121C>T
  hgvsp: ENSP00000473316.1:p.Arg41Trp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.121C>T
  hgvsp: ENSP00000473374.1:p.Arg41Trp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.121C>T
  hgvsp: ENSP00000473329.1:p.Arg41Trp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.169C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.227C>T
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.175C>T
  hgvsp: ENSP00000473325.1:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.148C>T
  hgvsp: ENSP00000473578.1:p.Arg50Trp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.121C>T
  hgvsp: ENSP00000473573.1:p.Arg41Trp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.121C>T
  hgvsp: ENSP00000473504.1:p.Arg41Trp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.121C>T
  hgvsp: ENSP00000358909.4:p.Arg41Trp
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.368C>T
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg41Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

10-104486515-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486515
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486515
    reference: chr 10
allele count: 10
allele frequency: 8.239675686364985e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.228G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.170G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.149G>A
  hgvsp: ENSP00000473578.1:p.Arg50Gln
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.122G>A
  hgvsp: ENSP00000473329.1:p.Arg41Gln
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.122G>A
  hgvsp: ENSP00000473573.1:p.Arg41Gln
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.176G>A
  hgvsp: ENSP00000473325.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.122G>A
  hgvsp: ENSP00000473518.1:p.Arg41Gln
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.122G>A
  hgvsp: ENSP00000473316.1:p.Arg41Gln
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.122G>A
  hgvsp: ENSP00000358909.4:p.Arg41Gln
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.369G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.122G>A
  hgvsp: ENSP00000473504.1:p.Arg41Gln
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.122G>A
  hgvsp: ENSP00000473374.1:p.Arg41Gln
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg41Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

10-104486523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104486523
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104486523
    reference: chr 10
allele count: 5
allele frequency: 4.119837843182493e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473578
  ensembl transcript: ENST00000602439
  gene symbol: SFXN2
  hgvsc: ENST00000602439.1:c.157G>A
  hgvsp: ENSP00000473578.1:p.Asp53Asn
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602287
  gene symbol: SFXN2
  hgvsc: ENST00000602287.1:n.236G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473518
  ensembl transcript: ENST00000602764
  gene symbol: SFXN2
  hgvsc: ENST00000602764.1:c.130G>A
  hgvsp: ENSP00000473518.1:p.Asp44Asn
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000358909
  ensembl transcript: ENST00000369893
  gene symbol: SFXN2
  hgvsc: ENST00000369893.5:c.130G>A
  hgvsp: ENSP00000358909.4:p.Asp44Asn
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473374
  ensembl transcript: ENST00000602868
  gene symbol: SFXN2
  hgvsc: ENST00000602868.1:c.130G>A
  hgvsp: ENSP00000473374.1:p.Asp44Asn
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473325
  ensembl transcript: ENST00000459894
  gene symbol: SFXN2
  hgvsc: ENST00000459894.2:c.184G>A
  hgvsp: ENSP00000473325.1:p.Asp62Asn
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473329
  ensembl transcript: ENST00000602670
  gene symbol: SFXN2
  hgvsc: ENST00000602670.1:c.130G>A
  hgvsp: ENSP00000473329.1:p.Asp44Asn
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473316
  ensembl transcript: ENST00000602544
  gene symbol: SFXN2
  hgvsc: ENST00000602544.1:c.130G>A
  hgvsp: ENSP00000473316.1:p.Asp44Asn
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473573
  ensembl transcript: ENST00000602831
  gene symbol: SFXN2
  hgvsc: ENST00000602831.1:c.130G>A
  hgvsp: ENSP00000473573.1:p.Asp44Asn
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602785
  gene symbol: SFXN2
  hgvsc: ENST00000602785.1:n.377G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156398
  ensembl transcript: ENST00000602660
  gene symbol: SFXN2
  hgvsc: ENST00000602660.1:n.178G>A
  variant of: http://identifiers.org/hgnc/16086
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156398
  ensembl protein: ENSP00000473504
  ensembl transcript: ENST00000480358
  gene symbol: SFXN2
  hgvsc: ENST00000480358.2:c.130G>A
  hgvsp: ENSP00000473504.1:p.Asp44Asn
  variant of: http://identifiers.org/hgnc/16086
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp44Asn
num of homozygotes: 0
reference allele: G

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.68503353216729e-5
allele num: 59346
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: -7.290000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

DP
type: SiteQuality
SIO_000300: 1.464009e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

QD
type: SiteQuality
SIO_000300: 1.748e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.536e0

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.94e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.128668171557562e-4
allele num: 8860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: -2.617e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.455e0

QD
type: SiteQuality
SIO_000300: 1.079e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

FS
type: SiteQuality
SIO_000300: 6.474e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.449767e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8810
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.266e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.971e0

FS
type: SiteQuality
SIO_000300: 2.168e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

MQ
type: SiteQuality
SIO_000300: 5.703e1

DP
type: SiteQuality
SIO_000300: 1.402548e6

VQSLOD
type: SiteQuality
SIO_000300: -1.081e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10768
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.737e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.33e-1

QD
type: SiteQuality
SIO_000300: 3.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

FS
type: SiteQuality
SIO_000300: 2.098e0

DP
type: SiteQuality
SIO_000300: 1.321982e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5352
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.293243e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.75e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

East Asian
type: Population
allele count: 12
allele frequency: 1.487357461576599e-3
allele num: 8068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56924
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.877e1

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.83e-1

QD
type: SiteQuality
SIO_000300: 1.29e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.162e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

DP
type: SiteQuality
SIO_000300: 1.284772e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.814e0

FS
type: SiteQuality
SIO_000300: 1.845e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.245e0

MQ
type: SiteQuality
SIO_000300: 6.031e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 1.264363e6

QD
type: SiteQuality
SIO_000300: 2.419e1

VQSLOD
type: SiteQuality
SIO_000300: -2.733e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 7.655014034192396e-4
allele num: 7838
num of homozygotes: 0

East Asian
type: Population
allele count: 29
allele frequency: 3.934871099050203e-3
allele num: 7370
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.179123992155154e-4
allele num: 9178
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

MQ
type: SiteQuality
SIO_000300: 5.846e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.23e-2

DP
type: SiteQuality
SIO_000300: 1.109721e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.6e0

QD
type: SiteQuality
SIO_000300: 1.817e1

East Asian
type: Population
allele count: 1010
allele frequency: 1.370420624151967e-1
allele num: 7370
num of homozygotes: 60

European (Finnish)
type: Population
allele count: 885
allele frequency: 1.758744038155803e-1
allele num: 5032
num of homozygotes: 65

Other
type: Population
allele count: 60
allele frequency: 1.013513513513514e-1
allele num: 592
num of homozygotes: 3

South Asian
type: Population
allele count: 217
allele frequency: 2.981588348447376e-2
allele num: 7278
num of homozygotes: 6

MQ
type: SiteQuality
SIO_000300: 5.846e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.23e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

QD
type: SiteQuality
SIO_000300: 1.817e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

DP
type: SiteQuality
SIO_000300: 1.109721e6

Latino
type: Population
allele count: 1
allele frequency: 1.089561996077577e-4
allele num: 9178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.571338780641106e-4
allele num: 50912
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 1.109721e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

MQ
type: SiteQuality
SIO_000300: 5.846e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.23e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.6e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

QD
type: SiteQuality
SIO_000300: 1.817e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
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Latino
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allele num: 9704
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.42e-1

FS
type: SiteQuality
SIO_000300: 1.104e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.531e0

DP
type: SiteQuality
SIO_000300: 9.86142e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.327e1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.807638122072878e-5
allele num: 52526
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7564
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9628
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.47e-1

FS
type: SiteQuality
SIO_000300: 2.319e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.022e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 1.682e1

DP
type: SiteQuality
SIO_000300: 9.60398e5

VQSLOD
type: SiteQuality
SIO_000300: -5.135999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

European (Finnish)
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allele count: 0
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allele num: 4888
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European (Non-Finnish)
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allele frequency: 1.984126984126984e-5
allele num: 50400
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South Asian
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Other
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allele num: 578
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.388e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.84e-1

InbreedingCoeff
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SIO_000300: -7.5e-3

QD
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DP
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.13e-1

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

South Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
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SIO_000300: 7.31e-1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -9.4e-3

DP
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SIO_000300: 8.63101e5

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.049e1

South Asian
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Other
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allele num: 556
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European (Finnish)
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allele frequency: 0.0e0
allele num: 4716
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African
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DP
type: SiteQuality
SIO_000300: 8.5743e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.377e-1

FS
type: SiteQuality
SIO_000300: 2.251e0

MQRankSum
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SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 7.62e0

European (Finnish)
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allele num: 4738
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South Asian
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African
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European (Non-Finnish)
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allele num: 49096
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.063e1

DP
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SIO_000300: 8.52856e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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VQSLOD
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SIO_000300: -2.759e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

East Asian
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Latino
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 544
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European (Non-Finnish)
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allele frequency: 2.083072949214682e-5
allele num: 48006
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.3e0

DP
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InbreedingCoeff
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SIO_000300: -1.06e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

QD
type: SiteQuality
SIO_000300: 4.17e0

East Asian
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allele count: 0
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allele num: 6904
num of homozygotes: 0

African
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South Asian
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Other
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MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

VQSLOD
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQ
type: SiteQuality
SIO_000300: 5.843e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.78e-1

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

DP
type: SiteQuality
SIO_000300: 8.37505e5

European (Non-Finnish)
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num of homozygotes: 0

East Asian
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Other
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South Asian
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

FS
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SIO_000300: 0.0e0

MQ
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DP
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

QD
type: SiteQuality
SIO_000300: 1.942e1

Latino
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 6824
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European (Finnish)
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Other
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.82e1

MQRankSum
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DP
type: SiteQuality
SIO_000300: 8.28604e5

InbreedingCoeff
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QD
type: SiteQuality
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South Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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BaseQRankSum
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VQSLOD
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MQ
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QD
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DP
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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Other
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South Asian
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Latino
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European (Finnish)
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DP
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FS
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QD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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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: 1.0e0
allele num: 4
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European (Non-Finnish)
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allele frequency: 1.0e0
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South Asian
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num of homozygotes: 0

Latino
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allele frequency: 1.0e0
allele num: 2
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African
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allele frequency: 7.5e-1
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European (Finnish)
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allele frequency: 1.0e0
allele num: 8
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ReadPosRankSum
type: SiteQuality
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DP
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MQRankSum
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FS
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InbreedingCoeff
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QD
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Other
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East Asian
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Latino
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European (Finnish)
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num of homozygotes: 0

African
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DP
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MQ
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VQSLOD
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QD
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FS
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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Latino
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European (Finnish)
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DP
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FS
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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SIO_000300: -4.21e-1

MQRankSum
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SIO_000300: -1.638e0

BaseQRankSum
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SIO_000300: 9.22e-1

InbreedingCoeff
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QD
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MQ
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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

African
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allele frequency: NaN
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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DP
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ClippingRankSum
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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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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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East Asian
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Latino
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InbreedingCoeff
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SIO_000300: -1.131e-1

MQ
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QD
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DP
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VQSLOD
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FS
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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: 26

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
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Latino
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 5.0e-1
allele num: 2
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 1.651e-1

MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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SIO_000300: 7.27e-1

DP
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SIO_000300: 6.569e3

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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South Asian
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Other
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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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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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MQRankSum
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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South Asian
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Other
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Latino
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European (Finnish)
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QD
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DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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Other
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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DP
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MQ
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Non-Finnish)
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African
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East Asian
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Latino
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Other
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QD
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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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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Latino
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European (Non-Finnish)
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allele num: 64712
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South Asian
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Other
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VQSLOD
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Finnish)
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Latino
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Other
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South Asian
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European (Non-Finnish)
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allele frequency: 6.172267999876555e-5
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 10264
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

African
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European (Non-Finnish)
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allele num: 66708
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Other
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European (Finnish)
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South Asian
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East Asian
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ClippingRankSum
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MQ
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66730
num of homozygotes: 0

Latino
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East Asian
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European (Finnish)
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Other
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South Asian
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African
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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DP
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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Latino
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Other
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QD
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MQRankSum
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FS
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MQ
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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African
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ReadPosRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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SIO_000300: -8.386e-1

MQ
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SIO_000300: 5.982e1

InbreedingCoeff
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SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.309e0

QD
type: SiteQuality
SIO_000300: 1.685e1

GenotypeDepth
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variant carriers: 0

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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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

African
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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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num of homozygotes: 0

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

Latino
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allele num: 11578
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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DP
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SIO_000300: 1.823709e6

FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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SIO_000300: -3.93e-1

QD
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

East Asian
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allele frequency: 0.0e0
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African
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Other
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Latino
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allele frequency: 0.0e0
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FS
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SIO_000300: 0.0e0

QD
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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SIO_000300: 5.881e1

MQRankSum
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DP
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SIO_000300: 1.823737e6

ReadPosRankSum
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SIO_000300: -6.840000000000001e-1

GenotypeDepth
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variant carriers: 0

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: 8.25e1
variant carriers: 0

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

East Asian
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allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

FS
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DP
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QD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.989e1

MQRankSum
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SIO_000300: 1.51e-1

VQSLOD
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SIO_000300: 1.83e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

East Asian
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Other
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African
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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FS
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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QD
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DP
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InbreedingCoeff
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 3
allele frequency: 2.883506343713956e-4
allele num: 10404
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

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

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

Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.823706e6

FS
type: SiteQuality
SIO_000300: 9.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
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SIO_000300: 1.638e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

MQ
type: SiteQuality
SIO_000300: 6.004e1

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 20

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
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 (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.397506593143131e-4
allele num: 66736
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
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
type: Population
allele count: 2
allele frequency: 1.92270717169775e-4
allele num: 10402
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
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SIO_000300: -1.026e0

VQSLOD
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SIO_000300: 3.36e0

QD
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SIO_000300: 1.353e1

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.824705e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.23e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.87e-1

GenotypeDepth
all individuals: 409
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1311
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variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.990649724286742e-5
allele num: 66736
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 3.403e0

QD
type: SiteQuality
SIO_000300: 1.258e1

DP
type: SiteQuality
SIO_000300: 1.823825e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 60
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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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
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 9997
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.823439e6

VQSLOD
type: SiteQuality
SIO_000300: -2.21e-1

BaseQRankSum
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SIO_000300: -2.268e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.113e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.02e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

GenotypeDepth
all individuals: 348
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 101
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variant carriers: 0

GenotypeDepth
all individuals: 109
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variant carriers: 0

GenotypeDepth
all individuals: 402
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GenotypeQuality
all individuals: 0
bin: 1.25e1
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GenotypeQuality
all individuals: 4298
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2790
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5482
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1283
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.946e0

FS
type: SiteQuality
SIO_000300: 5.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-2

QD
type: SiteQuality
SIO_000300: 1.42e1

DP
type: SiteQuality
SIO_000300: 1.858855e6

GenotypeDepth
all individuals: 178
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variant carriers: 40

GenotypeDepth
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variant carriers: 5

GenotypeDepth
all individuals: 59
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variant carriers: 34

GenotypeDepth
all individuals: 95
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variant carriers: 38

GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 0
bin: 1.25e1
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GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 3456
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GenotypeQuality
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GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 5482
bin: 9.75e1
variant carriers: 692

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1283
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 661
allele frequency: 6.354547202461065e-2
allele num: 10402
num of homozygotes: 24

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

European (Non-Finnish)
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allele count: 15
allele frequency: 2.247662431071685e-4
allele num: 66736
num of homozygotes: 0

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

Other
type: Population
allele count: 9
allele frequency: 9.911894273127754e-3
allele num: 908
num of homozygotes: 1

Latino
type: Population
allele count: 29
allele frequency: 2.504750388668164e-3
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.09e-1

InbreedingCoeff
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SIO_000300: 5.8e-2

QD
type: SiteQuality
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ClippingRankSum
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MQ
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DP
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SIO_000300: 1.858855e6

BaseQRankSum
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SIO_000300: -1.946e0

VQSLOD
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SIO_000300: 4.55e0

FS
type: SiteQuality
SIO_000300: 5.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1295
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

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

QD
type: SiteQuality
SIO_000300: 1.329e1

BaseQRankSum
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SIO_000300: -2.486e0

GenotypeDepth
all individuals: 73
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variant carriers: 4

GenotypeDepth
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GenotypeDepth
all individuals: 66
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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
all individuals: 4917
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GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4339
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3486
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.446519015794048e-4
allele num: 66734
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.537205081669691e-4
allele num: 6612
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

VQSLOD
type: SiteQuality
SIO_000300: 5.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

DP
type: SiteQuality
SIO_000300: 1.821953e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.354e1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

GenotypeDepth
all individuals: 99
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 662
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5183
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13007
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4890
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4342
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 32148
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3492
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2809
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10066
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.884060757546626e-4
allele num: 10402
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.117e0

VQSLOD
type: SiteQuality
SIO_000300: 6.61e-1

QD
type: SiteQuality
SIO_000300: 1.665e1

DP
type: SiteQuality
SIO_000300: 1.819933e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

FS
type: SiteQuality
SIO_000300: 1.855e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

GenotypeDepth
all individuals: 141
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23176
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10053
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32081
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4889
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 1294
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2808
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4340
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -4.649e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.24e-1

QD
type: SiteQuality
SIO_000300: 3.482e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.819276e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

GenotypeDepth
all individuals: 5187
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10049
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4890
bin: 9.75e1
variant carriers: 10

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

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

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

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4338
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32070
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2806
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3492
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 8.75e1
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: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
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: 2
allele frequency: 2.997601918465228e-5
allele num: 66720
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: 4
allele frequency: 3.846893633391037e-4
allele num: 10398
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e-1

DP
type: SiteQuality
SIO_000300: 1.819628e6

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 1.426e1

GenotypeDepth
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 1167
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5180
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10041
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32073
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4886
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3488
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1620
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4340
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 8.25e1
variant carriers: 0