12-52788718-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788718
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788718
    reference: chr 12
allele count: 15
allele frequency: 1.282599401453613e-4
allele num: 116950
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-7058C>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.*41G>A
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9825
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7894
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11738
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19795
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3836
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 884
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

12-52788730-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788730
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788730
    reference: chr 12
allele count: 1
allele frequency: 8.525149190110827e-6
allele num: 117300
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.*29C>A
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-7046G>T
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7967
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3936
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19840
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
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genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5612
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11516
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

12-52788733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788733
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788733
    reference: chr 12
allele count: 1
allele frequency: 8.514261387824607e-6
allele num: 117450
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-7043C>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.*26G>A
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3964
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16072
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-52788734-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788734
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788734
    reference: chr 12
allele count: 9
allele frequency: 7.659574468085106e-5
allele num: 117500
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-7042T>C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.*25A>G
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 1
genotype depth: GenotypeDepth
  all individuals: 394
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19863
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
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  bin: 7.25e1
  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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genotype quality: GenotypeQuality
  all individuals: 5709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8596
  num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

12-52788739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788739
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788739
    reference: chr 12
allele count: 1
allele frequency: 8.499498529586754e-6
allele num: 117654
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-7037C>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.*20G>A
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  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
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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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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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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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: 9.75e1
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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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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  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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  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8596
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

12-52788750-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788750
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788750
    reference: chr 12
allele count: 3
allele frequency: 2.541726679657714e-5
allele num: 118030
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-7026C>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.*9G>A
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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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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  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16310
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

12-52788751-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788751
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788751
    reference: chr 12
allele count: 2
allele frequency: 1.692706129288894e-5
allele num: 118154
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.*8C>T
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-7025G>A
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  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
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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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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16346
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

12-52788769-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788769
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788769
    reference: chr 12
allele count: 1
allele frequency: 8.505281779985371e-6
allele num: 117574
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1532A>G
  hgvsp: ENSP00000257974.2:p.His511Arg
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-7007T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  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
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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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hgvs: p.His511Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.070171178827243e-5
  allele num: 16474
  num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

12-52788778-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788778
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788778
    reference: chr 12
allele count: 1
allele frequency: 8.404915194405689e-6
allele num: 118978
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1523C>T
  hgvsp: ENSP00000257974.2:p.Ser508Phe
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6998G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  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 quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19866
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15038
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser508Phe
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8608
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-52788779-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788779
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788779
    reference: chr 12
allele count: 3440
allele frequency: 3.990904450322521e-2
allele num: 86196
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1522T>C
  hgvsp: ENSP00000257974.2:p.Ser508Pro
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6997A>G
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 6.75e1
  variant carriers: 394
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 7.25e1
  variant carriers: 378
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6750
  bin: 3.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 3.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 6.25e1
  variant carriers: 323
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 9.75e1
  variant carriers: 889
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 4.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8985
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 4.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 386
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 8.25e1
  variant carriers: 362
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.75e1
  variant carriers: 284
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.25e1
  variant carriers: 251
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 5.75e1
  variant carriers: 279
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 5.25e1
  variant carriers: 194
genotype quality: GenotypeQuality
  all individuals: 13374
  bin: 2.5e0
  variant carriers: 114
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 9.25e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 10026
  bin: 9.75e1
  variant carriers: 971
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 207
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 3.25e1
  variant carriers: 177
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 1.75e1
  variant carriers: 213
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 4.25e1
  variant carriers: 209
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 2.25e1
  variant carriers: 191
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 1.25e1
  variant carriers: 167
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 2.75e1
  variant carriers: 189
genotype quality: GenotypeQuality
  all individuals: 10091
  bin: 6.25e1
  variant carriers: 165
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 7.5e0
  variant carriers: 177
genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 6.75e1
  variant carriers: 138
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 8.25e1
  variant carriers: 121
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 7.25e1
  variant carriers: 155
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 193
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 168
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 8.75e1
  variant carriers: 133
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 5.75e1
  variant carriers: 179
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.75e1
  variant carriers: 142
hgvs: p.Ser508Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 569
  allele frequency: 7.141064257028112e-2
  allele num: 7968
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-52788781-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788781
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788781
    reference: chr 12
allele count: 32
allele frequency: 2.742496700433657e-4
allele num: 116682
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6995C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1520G>C
  hgvsp: ENSP00000257974.2:p.Ser507Thr
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8960
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13928
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20429
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5581
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser507Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 7
  allele frequency: 8.19480215406228e-4
  allele num: 8542
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

12-52788782-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788782
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788782
    reference: chr 12
allele count: 1
allele frequency: 8.455658526686058e-6
allele num: 118264
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1519A>G
  hgvsp: ENSP00000257974.2:p.Ser507Gly
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6994T>C
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20893
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser507Gly
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 872
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

12-52788782-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788782
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788782
    reference: chr 12
allele count: 17
allele frequency: 1.43746194953663e-4
allele num: 118264
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6994T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1519A>C
  hgvsp: ENSP00000257974.2:p.Ser507Arg
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14097
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8989
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7428
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20893
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser507Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 2.063131834124201e-4
  allele num: 9694
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

12-52788783-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788783
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788783
    reference: chr 12
allele count: 1
allele frequency: 8.436540343535924e-6
allele num: 118532
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1518C>T
  hgvsp: ENST00000257974.2:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6993G>A
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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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: 2602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly506Gly
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.06134076857801e-5
  allele num: 16498
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-52788784-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788784
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788784
    reference: chr 12
allele count: 2
allele frequency: 1.687621297780778e-5
allele num: 118510
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1517G>A
  hgvsp: ENSP00000257974.2:p.Gly506Asp
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6992C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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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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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly506Asp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64688
  num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-52788787-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788787
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788787
    reference: chr 12
allele count: 2
allele frequency: 1.685289111347052e-5
allele num: 118674
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6989C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1514G>A
  hgvsp: ENSP00000257974.2:p.Gly505Glu
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 4.25e1
  variant carriers: 0
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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  bin: 5.25e1
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genotype depth: GenotypeDepth
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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
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20919
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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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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  bin: 6.75e1
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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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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly505Glu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6608
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-52788789-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788789
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788789
    reference: chr 12
allele count: 14
allele frequency: 1.190698940277943e-4
allele num: 117578
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6987A>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1512T>G
  hgvsp: ENST00000257974.2:c.1512T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
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: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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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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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 4
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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  bin: 9.25e1
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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: 1.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Ala504Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 8
  allele frequency: 1.238505124314952e-4
  allele num: 64594
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-52788791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788791
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788791
    reference: chr 12
allele count: 1
allele frequency: 8.418075291265404e-6
allele num: 118792
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6985C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1510G>A
  hgvsp: ENSP00000257974.2:p.Ala504Thr
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 8.25e1
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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: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20697
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 5933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala504Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.021867974657674e-4
  allele num: 9786
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/12-52788793-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788793
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788793
    reference: chr 12
allele count: 1
allele frequency: 8.413542437908056e-6
allele num: 118856
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6983C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1508G>T
  hgvsp: ENSP00000257974.2:p.Gly503Val
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 4.25e1
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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: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 2274
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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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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 6.75e1
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genotype depth: GenotypeDepth
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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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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: 1166
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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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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20700
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly503Val
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6610
  num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD

12-52788795-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788795
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788795
    reference: chr 12
allele count: 2
allele frequency: 1.683615058253081e-5
allele num: 118792
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6981T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1506A>G
  hgvsp: ENST00000257974.2:c.1506A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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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 depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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
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  bin: 4.75e1
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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
  all individuals: 1884
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  variant carriers: 0
hgvs: p.Leu502Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6512
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

12-52788797-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788797
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788797
    reference: chr 12
allele count: 1
allele frequency: 8.402372830087217e-6
allele num: 119014
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6979G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1504C>G
  hgvsp: ENSP00000257974.2:p.Leu502Val
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 344
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genotype depth: GenotypeDepth
  all individuals: 8286
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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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 depth: GenotypeDepth
  all individuals: 4410
  bin: 4.75e1
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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
  all individuals: 2835
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu502Val
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6594
  num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-52788799-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788799
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788799
    reference: chr 12
allele count: 7
allele frequency: 5.870119415000671e-5
allele num: 119248
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1502C>T
  hgvsp: ENSP00000257974.2:p.Thr501Met
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6977G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 7.5e0
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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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  bin: 8.25e1
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genotype quality: GenotypeQuality
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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: 2.75e1
  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: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 20662
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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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: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr501Met
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 6
  allele frequency: 9.206407659731172e-5
  allele num: 65172
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

12-52788802-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788802
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788802
    reference: chr 12
allele count: 4
allele frequency: 3.349354411937099e-5
allele num: 119426
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1499T>C
  hgvsp: ENSP00000257974.2:p.Met500Thr
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6974A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8653
  bin: 2.25e1
  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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  bin: 3.75e1
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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: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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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
  all individuals: 931
  bin: 2.25e1
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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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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met500Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11548
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

12-52788805-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788805
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788805
    reference: chr 12
allele count: 1
allele frequency: 8.362322718758362e-6
allele num: 119584
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1496G>A
  hgvsp: ENSP00000257974.2:p.Ser499Asn
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6971C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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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: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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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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  bin: 9.25e1
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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: 8.25e1
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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
  all individuals: 863
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser499Asn
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65398
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

12-52788808-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788808
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788808
    reference: chr 12
allele count: 1
allele frequency: 8.350870160670742e-6
allele num: 119748
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6968G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1493C>G
  hgvsp: ENSP00000257974.2:p.Ser498Cys
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14646
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  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: 4406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
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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
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser498Cys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8606
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-52788814-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788814
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788814
    reference: chr 12
allele count: 913
allele frequency: 7.614043866233008e-3
allele num: 119910
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1487G>A
  hgvsp: ENSP00000257974.2:p.Arg496Gln
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6962C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 5.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 149
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  variant carriers: 9
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 285
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 4.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
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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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  variant carriers: 60
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
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  variant carriers: 63
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 285
genotype quality: GenotypeQuality
  all individuals: 18778
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 21032
  bin: 9.75e1
  variant carriers: 898
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Arg496Gln
num of homozygotes: 11
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8606
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

12-52788815-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788815
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788815
    reference: chr 12
allele count: 6
allele frequency: 5.000666755567409e-5
allele num: 119984
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1486C>T
  hgvsp: ENSP00000257974.2:p.Arg496Trp
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6961G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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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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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20480
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg496Trp
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 4
  allele frequency: 2.422480620155039e-4
  allele num: 16512
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

12-52788815-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788815
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788815
    reference: chr 12
allele count: 1
allele frequency: 8.334444592612349e-6
allele num: 119984
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1486C>A
  hgvsp: ENST00000257974.2:c.1486C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6961G>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  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: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.25e1
  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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  bin: 4.25e1
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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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  bin: 2.5e0
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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
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6147
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg496Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 892
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

12-52788817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788817
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788817
    reference: chr 12
allele count: 5
allele frequency: 4.164098805736463e-5
allele num: 120074
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1484G>A
  hgvsp: ENSP00000257974.2:p.Gly495Glu
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6959C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 457
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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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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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly495Glu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 5
  allele frequency: 5.808550185873606e-4
  allele num: 8608
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

12-52788818-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788818
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788818
    reference: chr 12
allele count: 5
allele frequency: 4.163613350209846e-5
allele num: 120088
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1483G>A
  hgvsp: ENSP00000257974.2:p.Gly495Arg
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6958C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 5
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: 9.25e1
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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
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly495Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 892
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

12-52788819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788819
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788819
    reference: chr 12
allele count: 9
allele frequency: 7.493006527241241e-5
allele num: 120112
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1482C>T
  hgvsp: ENST00000257974.2:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6957G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14981
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20481
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser494Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.16144018583043e-4
  allele num: 8610
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

12-52788819-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788819
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788819
    reference: chr 12
allele count: 1
allele frequency: 8.325562808045825e-6
allele num: 120112
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6957G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1482C>A
  hgvsp: ENSP00000257974.2:p.Ser494Arg
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20481
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser494Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

12-52788820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788820
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788820
    reference: chr 12
allele count: 1
allele frequency: 8.321544478655239e-6
allele num: 120170
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1481G>A
  hgvsp: ENSP00000257974.2:p.Ser494Asn
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6956C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2867
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20478
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser494Asn
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 894
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ

12-52788827-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788827
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788827
    reference: chr 12
allele count: 13
allele frequency: 1.080452127659574e-4
allele num: 120320
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1474T>C
  hgvsp: ENSP00000257974.2:p.Cys492Arg
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6949A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
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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: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6167
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20482
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys492Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 896
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-52788848-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788848
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788848
    reference: chr 12
allele count: 5
allele frequency: 4.142227524273453e-5
allele num: 120708
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1453G>A
  hgvsp: ENSP00000257974.2:p.Glu485Lys
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6928C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20477
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2880
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19552
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu485Lys
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-52788849-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788849
    reference: chr 12
allele count: 4
allele frequency: 3.313178166155885e-5
allele num: 120730
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6927G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1452C>T
  hgvsp: ENST00000257974.2:c.1452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20477
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 19575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys484Cys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66258
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-52788849-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788849
    reference: chr 12
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6927G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1452C>G
  hgvsp: ENSP00000257974.2:p.Cys484Trp
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20477
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  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: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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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: 1.75e1
  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: 5.25e1
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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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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys484Trp
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11566
  num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-52788849-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788849
    reference: chr 12
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1452C>A
  hgvsp: ENSP00000257974.2:p.Cys484Ter
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6927G>T
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20477
  bin: 9.75e1
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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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  bin: 7.75e1
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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
  all individuals: 6163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19575
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys484Ter
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.509251713000694e-5
  allele num: 66258
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

12-52788854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788854
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788854
    reference: chr 12
allele count: 1
allele frequency: 8.273077750384698e-6
allele num: 120874
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6922G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1447C>T
  hgvsp: ENSP00000257974.2:p.Pro483Ser
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.25e1
  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: 3.75e1
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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: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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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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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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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: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 8.75e1
  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: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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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
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20477
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro483Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.703085581214826e-5
  allele num: 10306
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-52788854-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788854
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788854
    reference: chr 12
allele count: 1
allele frequency: 8.273077750384698e-6
allele num: 120874
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1447C>A
  hgvsp: ENSP00000257974.2:p.Pro483Thr
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6922G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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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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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  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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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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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
  all individuals: 19790
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro483Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.160631383472609e-4
  allele num: 8616
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

12-52788855-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788855
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788855
    reference: chr 12
allele count: 1
allele frequency: 8.272530236098013e-6
allele num: 120882
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1446C>G
  hgvsp: ENST00000257974.2:c.1446C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6921G>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
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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
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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
hgvs: p.Val482Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8616
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-52788856-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788856
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788856
    reference: chr 12
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1445T>G
  hgvsp: ENSP00000257974.2:p.Val482Gly
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6920A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 5.75e1
  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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genotype quality: GenotypeQuality
  all individuals: 3055
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hgvs: p.Val482Gly
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11564
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-52788857-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788857
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788855
    reference: chr 12
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1442_1443delAT
  hgvsp: ENSP00000257974.2:p.Tyr481CysfsTer35
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6917_147-6916delTA
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  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
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20478
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2880
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr481CysfsTer35
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8618
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: CAT
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-52788861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788861
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788861
    reference: chr 12
allele count: 4
allele frequency: 3.307862789851477e-5
allele num: 120924
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1440C>T
  hgvsp: ENST00000257974.2:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6915G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20479
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2880
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu480Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11566
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-52788862-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788862
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788862
    reference: chr 12
allele count: 9
allele frequency: 7.442198921708067e-5
allele num: 120932
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6914A>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1439T>G
  hgvsp: ENSP00000257974.2:p.Leu480Arg
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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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: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20477
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1870
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu480Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-52788863-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788863
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788863
    reference: chr 12
allele count: 2
allele frequency: 1.653849334325643e-5
allele num: 120930
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6913G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1438C>T
  hgvsp: ENSP00000257974.2:p.Leu480Phe
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
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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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  bin: 6.75e1
  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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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu480Phe
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10318
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

12-52788868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788868
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788868
    reference: chr 12
allele count: 6
allele frequency: 4.960399477504589e-5
allele num: 120958
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6908C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1433G>A
  hgvsp: ENSP00000257974.2:p.Gly478Asp
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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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: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
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  variant carriers: 0
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  variant carriers: 0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly478Asp
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

12-52788877-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788877
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788877
    reference: chr 12
allele count: 1
allele frequency: 8.264872638312644e-6
allele num: 120994
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1424T>C
  hgvsp: ENSP00000257974.2:p.Val475Ala
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6899A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15312
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20470
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val475Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

12-52788878-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788878
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788878
    reference: chr 12
allele count: 42
allele frequency: 3.471074380165289e-4
allele num: 121000
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6898C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1423G>A
  hgvsp: ENSP00000257974.2:p.Val475Met
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15311
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20492
  bin: 9.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val475Met
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8620
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

12-52788900-CCTGAGGACGCCAGTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788900
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788885
    reference: chr 12
allele count: 4
allele frequency: 3.305184181388508e-5
allele num: 121022
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsp: ENSP00000257974.2:p.Ser462_Leu466del
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20479
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser462_Leu466del
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8626
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: CCTGAGGACGCCAGTG
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

12-52788903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788903
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788903
    reference: chr 12
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1398C>T
  hgvsp: ENST00000257974.2:c.1398C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6873G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20475
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19440
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu466Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8626
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

12-52788905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788905
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788905
    reference: chr 12
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6871G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1396C>T
  hgvsp: ENSP00000257974.2:p.Leu466Phe
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20473
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu466Phe
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10340
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

12-52788907-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788907
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788907
    reference: chr 12
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6869A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1394T>C
  hgvsp: ENSP00000257974.2:p.Val465Ala
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  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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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val465Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6582
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-52788908-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788908
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788908
    reference: chr 12
allele count: 3
allele frequency: 2.479215906649257e-5
allele num: 121006
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1393G>A
  hgvsp: ENSP00000257974.2:p.Val465Ile
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6868C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 7.75e1
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genotype quality: GenotypeQuality
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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: 9.25e1
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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
  all individuals: 3053
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 122
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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: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20475
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Val465Ile
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 1.21153380179307e-4
  allele num: 16508
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

12-52788909-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788909
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788909
    reference: chr 12
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1392C>G
  hgvsp: ENST00000257974.2:c.1392C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6867G>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  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: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6113
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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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
  all individuals: 121
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 7.75e1
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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
  all individuals: 2553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly464Gly
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11558
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-52788918-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788918
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788918
    reference: chr 12
allele count: 1
allele frequency: 8.265145879824779e-6
allele num: 120990
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1383C>T
  hgvsp: ENST00000257974.2:c.1383C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6858G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20483
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu461Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11554
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-52788920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788920
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788920
    reference: chr 12
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6856G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1381C>T
  hgvsp: ENSP00000257974.2:p.Leu461Phe
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  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: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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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: 8.25e1
  variant carriers: 0
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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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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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
  all individuals: 19077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu461Phe
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11554
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-52788921-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788921
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788921
    reference: chr 12
allele count: 1
allele frequency: 8.265145879824779e-6
allele num: 120990
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1380C>A
  hgvsp: ENST00000257974.2:c.1380C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6855G>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 9.25e1
  variant carriers: 0
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
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20483
  bin: 9.75e1
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genotype quality: GenotypeQuality
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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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val460Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66502
  num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-52788926-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788926
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788926
    reference: chr 12
allele count: 1
allele frequency: 8.265692417053776e-6
allele num: 120982
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1375C>A
  hgvsp: ENSP00000257974.2:p.Pro459Thr
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6850G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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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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  bin: 8.25e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro459Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10336
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-52788927-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788927
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788927
    reference: chr 12
allele count: 4
allele frequency: 3.306932985003059e-5
allele num: 120958
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6849C>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1374G>T
  hgvsp: ENST00000257974.2:c.1374G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9131
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  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: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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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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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20494
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr458Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11550
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

12-52788927-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788927
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788927
    reference: chr 12
allele count: 6
allele frequency: 4.960399477504589e-5
allele num: 120958
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6849C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1374G>A
  hgvsp: ENST00000257974.2:c.1374G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20494
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr458Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.511956685215822e-5
  allele num: 66490
  num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-52788928-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788928
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788928
    reference: chr 12
allele count: 51016
allele frequency: 4.220593345136258e-1
allele num: 120874
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1373C>T
  hgvsp: ENSP00000257974.2:p.Thr458Met
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6848G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 8.75e1
  variant carriers: 888
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 3.25e1
  variant carriers: 2444
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 353
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 5.25e1
  variant carriers: 3924
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 6.75e1
  variant carriers: 2384
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 4.75e1
  variant carriers: 4213
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.75e1
  variant carriers: 3220
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 2.25e1
  variant carriers: 823
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 8.25e1
  variant carriers: 1165
genotype depth: GenotypeDepth
  all individuals: 11778
  bin: 2.75e1
  variant carriers: 1562
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 5.75e1
  variant carriers: 3627
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 9.75e1
  variant carriers: 3670
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 7.25e1
  variant carriers: 1919
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 4.25e1
  variant carriers: 3913
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 6.25e1
  variant carriers: 3034
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.75e1
  variant carriers: 1428
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 753
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 9.25e1
  variant carriers: 350
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 13966
  bin: 6.25e1
  variant carriers: 119
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 7.75e1
  variant carriers: 234
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 8.25e1
  variant carriers: 252
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.25e1
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 3180
  bin: 6.75e1
  variant carriers: 163
genotype quality: GenotypeQuality
  all individuals: 38900
  bin: 9.75e1
  variant carriers: 37579
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 199
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 45
hgvs: p.Thr458Met
num of homozygotes: 11604
population: African
  type: Population
  allele count: 3703
  allele frequency: 3.581237911025145e-1
  allele num: 10340
  num of homozygotes: 669
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

12-52788940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788940
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788940
    reference: chr 12
allele count: 10
allele frequency: 8.337641114575864e-5
allele num: 119938
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6836C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1361G>A
  hgvsp: ENSP00000257974.2:p.Cys454Tyr
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10140
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 556
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genotype quality: GenotypeQuality
  all individuals: 39768
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys454Tyr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8600
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

12-52788945-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788945
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788945
    reference: chr 12
allele count: 5885
allele frequency: 4.922132450109567e-2
allele num: 119562
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1356G>C
  hgvsp: ENSP00000257974.2:p.Glu452Asp
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6831C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 255
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 359
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.75e1
  variant carriers: 583
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 1.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.75e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 644
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 488
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 12008
  bin: 2.25e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 9783
  bin: 3.25e1
  variant carriers: 586
genotype depth: GenotypeDepth
  all individuals: 28
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29903
  bin: 2.75e1
  variant carriers: 481
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.75e1
  variant carriers: 665
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 203
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 151
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 6278
  bin: 9.75e1
  variant carriers: 5482
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
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  variant carriers: 3
genotype quality: GenotypeQuality
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8040
  bin: 6.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 2
hgvs: p.Glu452Asp
num of homozygotes: 282
population: South Asian
  type: Population
  allele count: 1108
  allele frequency: 6.767652088932323e-2
  allele num: 16372
  num of homozygotes: 47
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-52788947-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788947
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788947
    reference: chr 12
allele count: 1
allele frequency: 8.395882659143956e-6
allele num: 119106
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1354G>A
  hgvsp: ENSP00000257974.2:p.Glu452Lys
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6829C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32184
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu452Lys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8590
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

12-52788948-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788948
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788948
    reference: chr 12
allele count: 13
allele frequency: 1.095327165798831e-4
allele num: 118686
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1353C>T
  hgvsp: ENST00000257974.2:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6828G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9780
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31954
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41703
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr451Tyr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10052
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-52788951-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788951
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788951
    reference: chr 12
allele count: 2
allele frequency: 1.689874273354063e-5
allele num: 118352
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6825C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1350G>A
  hgvsp: ENST00000257974.2:c.1350G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 388
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Leu450Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11410
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/12-52788952-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788952
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788952
    reference: chr 12
allele count: 1
allele frequency: 8.448514751106756e-6
allele num: 118364
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1349T>G
  hgvsp: ENSP00000257974.2:p.Leu450Arg
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6824A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  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: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu450Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9986
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-52788957-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788957
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788957
    reference: chr 12
allele count: 12
allele frequency: 1.02537810817739e-4
allele num: 117030
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6819G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1344C>T
  hgvsp: ENST00000257974.2:c.1344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9175
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 881
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 4045
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala448Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.255473539346929e-5
  allele num: 15986
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

12-52788959-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788959
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788959
    reference: chr 12
allele count: 4
allele frequency: 3.427885851401148e-5
allele num: 116690
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1342G>A
  hgvsp: ENSP00000257974.2:p.Ala448Thr
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6817C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  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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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  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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  bin: 9.75e1
  variant carriers: 4
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
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala448Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 2.037074760643716e-4
  allele num: 9818
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

12-52788960-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788960
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788960
    reference: chr 12
allele count: 4
allele frequency: 3.438553056873667e-5
allele num: 116328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6816G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1341C>T
  hgvsp: ENST00000257974.2:c.1341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  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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  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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  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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  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
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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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  bin: 7.75e1
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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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  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
  all individuals: 853
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly447Gly
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8474
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

12-52788970-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788970
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788970
    reference: chr 12
allele count: 1
allele frequency: 8.882730195953028e-6
allele num: 112578
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1331G>A
  hgvsp: ENSP00000257974.2:p.Ser444Asn
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6806C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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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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  bin: 8.75e1
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genotype depth: GenotypeDepth
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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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  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser444Asn
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8250
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-52788973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788973
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788973
    reference: chr 12
allele count: 1
allele frequency: 8.89157612078317e-6
allele num: 112466
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1328G>A
  hgvsp: ENSP00000257974.2:p.Ser443Asn
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6803C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  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: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 35821
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser443Asn
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9458
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

12-52788975-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788975
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788975
    reference: chr 12
allele count: 1
allele frequency: 8.965072079179517e-6
allele num: 111544
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1326G>A
  hgvsp: ENST00000257974.2:c.1326G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6801C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  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
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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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: 5.25e1
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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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  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6138
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  variant carriers: 0
hgvs: p.Val442Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8170
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-52788980-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788980
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788980
    reference: chr 12
allele count: 1
allele frequency: 9.15147521780511e-6
allele num: 109272
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6796C>A
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1322-1G>T
  variant of: http://identifiers.org/hgnc/6459
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 3.25e1
  variant carriers: 1
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
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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: 1
genotype quality: GenotypeQuality
  all individuals: 364
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  variant carriers: 0
hgvs: c.1322-1G>T
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.810938065918146e-4
  allele num: 5522
  num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

12-52788980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788980
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788980
    reference: chr 12
allele count: 1
allele frequency: 9.15147521780511e-6
allele num: 109272
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1322-1G>A
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6796C>T
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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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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hgvs: c.1322-1G>A
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10634
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

12-52788991-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52788991
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 52788991
    reference: chr 12
allele count: 1
allele frequency: 9.634839579920993e-6
allele num: 103790
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161850
  ensembl protein: ENSP00000257974
  ensembl transcript: ENST00000257974
  gene symbol: KRT82
  hgvsc: ENST00000257974.2:c.1322-12C>A
  variant of: http://identifiers.org/hgnc/6459
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258253
  ensembl transcript: ENST00000547174
  gene symbol: RP3-416H24.4
  hgvsc: ENST00000547174.1:n.147-6785G>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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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  variant carriers: 0
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3731
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14262
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.341481689613187e-4
allele num: 64062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9484
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15838
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

DP
type: SiteQuality
SIO_000300: 2.044132e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

QD
type: SiteQuality
SIO_000300: 1.459e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

FS
type: SiteQuality
SIO_000300: 2.702e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557680924639397e-5
allele num: 64198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16002
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.276e1

DP
type: SiteQuality
SIO_000300: 2.066873e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

FS
type: SiteQuality
SIO_000300: 1.325e0

VQSLOD
type: SiteQuality
SIO_000300: -2.501e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 4.143e0

QD
type: SiteQuality
SIO_000300: 1.283e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 2.072024e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.88e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.40016802016242e-4
allele num: 64278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.073767e6

QD
type: SiteQuality
SIO_000300: 1.727e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.36e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 7.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9552
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553856672260551e-5
allele num: 64356
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16136
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 2.07955e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

FS
type: SiteQuality
SIO_000300: 4.032e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.407e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.573e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.652172564587662e-5
allele num: 64486
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 6.827e0

DP
type: SiteQuality
SIO_000300: 2.08979e6

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.368e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

QD
type: SiteQuality
SIO_000300: 1.09e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.098181367537256e-5
allele num: 64554
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

QD
type: SiteQuality
SIO_000300: 2.294e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

FS
type: SiteQuality
SIO_000300: 6.864e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.747e0

DP
type: SiteQuality
SIO_000300: 2.091694e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64082
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

VQSLOD
type: SiteQuality
SIO_000300: -2.02e0

QD
type: SiteQuality
SIO_000300: 2.011e1

MQ
type: SiteQuality
SIO_000300: 5.892e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

FS
type: SiteQuality
SIO_000300: 4.574e0

DP
type: SiteQuality
SIO_000300: 2.115961e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65018
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.019160211985324e-4
allele num: 9812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 9.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.482e-1

DP
type: SiteQuality
SIO_000300: 2.12114e6

QD
type: SiteQuality
SIO_000300: 8.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.507e0

MQRankSum
type: SiteQuality
SIO_000300: 3.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

South Asian
type: Population
allele count: 279
allele frequency: 2.153442420500154e-2
allele num: 12956
num of homozygotes: 0

East Asian
type: Population
allele count: 403
allele frequency: 6.485355648535565e-2
allele num: 6214
num of homozygotes: 0

African
type: Population
allele count: 334
allele frequency: 5.27479469361971e-2
allele num: 6332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 334
allele frequency: 1.107427055702918e-1
allele num: 3016
num of homozygotes: 0

Other
type: Population
allele count: 19
allele frequency: 3.198653198653199e-2
allele num: 594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1502
allele frequency: 3.058066617802753e-2
allele num: 49116
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.124e2

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 2.731248e6

QD
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 2.1704e2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.362e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.58e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.775e0

African
type: Population
allele count: 2
allele frequency: 2.112824846820199e-4
allele num: 9466
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.605071205279611e-4
allele num: 11516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.636661211129296e-3
allele num: 6110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.412385047550296e-4
allele num: 63722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.190476190476191e-3
allele num: 840
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.981e0

VQSLOD
type: SiteQuality
SIO_000300: -1.191e2

DP
type: SiteQuality
SIO_000300: 2.224167e6

FS
type: SiteQuality
SIO_000300: 1.58511e2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

QD
type: SiteQuality
SIO_000300: 5.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.322e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547748026621266e-5
allele num: 64610
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.735e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.739e0

VQSLOD
type: SiteQuality
SIO_000300: -2.553e1

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

FS
type: SiteQuality
SIO_000300: 6.9285e1

MQ
type: SiteQuality
SIO_000300: 5.833e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 2.216923e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.146788990825688e-3
allele num: 872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 8
allele frequency: 1.239925604463732e-3
allele num: 6452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.286488159727596e-5
allele num: 64610
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

DP
type: SiteQuality
SIO_000300: 2.216923e6

FS
type: SiteQuality
SIO_000300: 6.9285e1

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 9.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.735e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.739e0

VQSLOD
type: SiteQuality
SIO_000300: -2.553e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: -7.964e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.484e1

FS
type: SiteQuality
SIO_000300: 3.7685e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

DP
type: SiteQuality
SIO_000300: 2.218499e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.341e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

MQ
type: SiteQuality
SIO_000300: 5.932e1

East Asian
type: Population
allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.024590163934426e-4
allele num: 9760
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
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MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

FS
type: SiteQuality
SIO_000300: 2.144e0

DP
type: SiteQuality
SIO_000300: 2.219502e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.607e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

QD
type: SiteQuality
SIO_000300: 8.99e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543924656476764e-5
allele num: 64770
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
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DP
type: SiteQuality
SIO_000300: 2.220351e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 2.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e-1

QD
type: SiteQuality
SIO_000300: 1.715e1

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.984e0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
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European (Finnish)
type: Population
allele count: 3
allele frequency: 5.217391304347826e-4
allele num: 5750
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026061974143238e-4
allele num: 9746
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
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DP
type: SiteQuality
SIO_000300: 2.223142e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.149e0

QD
type: SiteQuality
SIO_000300: 4.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: -4.344e1

FS
type: SiteQuality
SIO_000300: 9.6825e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.128e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.937e0

QD
type: SiteQuality
SIO_000300: 1.097e1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

FS
type: SiteQuality
SIO_000300: 1.214e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 2.213818e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540642139643804e-5
allele num: 64908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.783e0

DP
type: SiteQuality
SIO_000300: 2.215209e6

FS
type: SiteQuality
SIO_000300: 5.247e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

QD
type: SiteQuality
SIO_000300: 9.34e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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allele num: 8594
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African
type: Population
allele count: 2
allele frequency: 2.037905033625433e-4
allele num: 9814
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.079e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

FS
type: SiteQuality
SIO_000300: 2.129e0

DP
type: SiteQuality
SIO_000300: 2.216627e6

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65012
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.214e1

MQ
type: SiteQuality
SIO_000300: 5.913e1

VQSLOD
type: SiteQuality
SIO_000300: -6.925e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

DP
type: SiteQuality
SIO_000300: 2.217672e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.09e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.007658202337767e-4
allele num: 9924
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

FS
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

QD
type: SiteQuality
SIO_000300: 1.182e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.91e-1

DP
type: SiteQuality
SIO_000300: 2.220919e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.53e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.593477262287552e-5
allele num: 65310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
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allele num: 9984
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.237e1

FS
type: SiteQuality
SIO_000300: 1.223e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.223343e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.97e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.331e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

DP
type: SiteQuality
SIO_000300: 2.224746e6

QD
type: SiteQuality
SIO_000300: 1.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65516
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 890
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African
type: Population
allele count: 1
allele frequency: 9.936406995230525e-5
allele num: 10064
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.974e0

VQSLOD
type: SiteQuality
SIO_000300: -2.106e0

MQRankSum
type: SiteQuality
SIO_000300: -1.423e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.378e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

DP
type: SiteQuality
SIO_000300: 2.226363e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.513317191283293e-3
allele num: 6608
num of homozygotes: 0

African
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allele count: 19
allele frequency: 1.882306320586487e-3
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Other
type: Population
allele count: 13
allele frequency: 1.457399103139013e-2
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num of homozygotes: 0

Latino
type: Population
allele count: 43
allele frequency: 3.722299168975069e-3
allele num: 11552
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 727
allele frequency: 1.107455138165311e-2
allele num: 65646
num of homozygotes: 7

South Asian
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allele count: 101
allele frequency: 6.116763565891472e-3
allele num: 16512
num of homozygotes: 3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

DP
type: SiteQuality
SIO_000300: 2.25942e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

QD
type: SiteQuality
SIO_000300: 1.364e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 6.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

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

African
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allele count: 1
allele frequency: 9.877518767285657e-5
allele num: 10124
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522255373561469e-5
allele num: 65692
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.088e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.861e0

DP
type: SiteQuality
SIO_000300: 2.225051e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

QD
type: SiteQuality
SIO_000300: 1.29e1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
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allele num: 11552
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522255373561469e-5
allele num: 65692
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.088e0

QD
type: SiteQuality
SIO_000300: 1.29e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.861e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

DP
type: SiteQuality
SIO_000300: 2.225051e6

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65768
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.092e1

VQSLOD
type: SiteQuality
SIO_000300: 8.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

DP
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SIO_000300: 2.225724e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.664e0

FS
type: SiteQuality
SIO_000300: 2.621e0

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.6e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

African
type: Population
allele count: 4
allele frequency: 3.941663381947182e-4
allele num: 10148
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65766
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

QD
type: SiteQuality
SIO_000300: 1.076e1

DP
type: SiteQuality
SIO_000300: 2.226141e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65790
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Latino
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allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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African
type: Population
allele count: 7
allele frequency: 6.895193065405832e-4
allele num: 10152
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.6e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 2.226722e6

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

FS
type: SiteQuality
SIO_000300: 5.35e-1

QD
type: SiteQuality
SIO_000300: 1.275e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519987840097279e-5
allele num: 65790
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MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.6e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.275e1

FS
type: SiteQuality
SIO_000300: 5.35e-1

DP
type: SiteQuality
SIO_000300: 2.226722e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

South Asian
type: Population
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African
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allele frequency: 0.0e0
allele num: 10164
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65824
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East Asian
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allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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FS
type: SiteQuality
SIO_000300: 1.1664e1

MQRankSum
type: SiteQuality
SIO_000300: -5.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.713e0

QD
type: SiteQuality
SIO_000300: 1.178e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 2.226851e6

VQSLOD
type: SiteQuality
SIO_000300: -1.549e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10192
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65938
num of homozygotes: 0

South Asian
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allele count: 13
allele frequency: 7.873062015503876e-4
allele num: 16512
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.86e-2

DP
type: SiteQuality
SIO_000300: 2.229058e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

FS
type: SiteQuality
SIO_000300: 1.109e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.4e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.94e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.548081277739198e-5
allele num: 66242
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VQSLOD
type: SiteQuality
SIO_000300: -6.414e-1

MQ
type: SiteQuality
SIO_000300: 5.847e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

FS
type: SiteQuality
SIO_000300: 6.646e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 2.232697e6

QD
type: SiteQuality
SIO_000300: 1.209e1

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

Other
type: Population
allele count: 0
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allele num: 900
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East Asian
type: Population
allele count: 2
allele frequency: 2.320724065908564e-4
allele num: 8618
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African
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allele count: 1
allele frequency: 9.735202492211838e-5
allele num: 10272
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

FS
type: SiteQuality
SIO_000300: 1.102e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 2.233246e6

QD
type: SiteQuality
SIO_000300: 1.226e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10272
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509251713000694e-5
allele num: 66258
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East Asian
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allele count: 0
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allele num: 8618
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 2.233246e6

QD
type: SiteQuality
SIO_000300: 1.226e1

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 1.102e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

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: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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
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allele num: 8618
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.102e0

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 2.233246e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 900
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QD
type: SiteQuality
SIO_000300: 9.74e0

FS
type: SiteQuality
SIO_000300: 4.419e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: -3.67e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

DP
type: SiteQuality
SIO_000300: 2.234696e6

MQ
type: SiteQuality
SIO_000300: 5.927e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66372
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
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allele num: 900
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

FS
type: SiteQuality
SIO_000300: 4.419e0

DP
type: SiteQuality
SIO_000300: 2.234696e6

MQ
type: SiteQuality
SIO_000300: 5.927e1

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.67e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 9.74e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 8.61e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

QD
type: SiteQuality
SIO_000300: 5.39e0

VQSLOD
type: SiteQuality
SIO_000300: -1.643e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 2.234622e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

African
type: Population
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num of homozygotes: 0

East Asian
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allele count: 0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.506387081224391e-5
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European (Finnish)
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allele count: 0
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South Asian
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

VQSLOD
type: SiteQuality
SIO_000300: -1.749e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.234649e6

MQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.764e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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African
type: Population
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Other
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.506387081224391e-5
allele num: 66384
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South Asian
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DP
type: SiteQuality
SIO_000300: 2.234648e6

MQ
type: SiteQuality
SIO_000300: 6.075e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.96e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.968e1

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.265e0

Other
type: Population
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allele num: 900
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10318
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 4
allele frequency: 4.641448131817127e-4
allele num: 8618
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66408
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South Asian
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MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

DP
type: SiteQuality
SIO_000300: 2.234819e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.929e1

FS
type: SiteQuality
SIO_000300: 2.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.788e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

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

South Asian
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 8
allele frequency: 1.204565302496462e-4
allele num: 66414
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East Asian
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European (Finnish)
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allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.363e0

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

South Asian
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allele num: 16512
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
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allele frequency: 1.729206294310911e-4
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.709e0

DP
type: SiteQuality
SIO_000300: 2.234512e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

Other
type: Population
allele count: 0
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allele num: 900
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Latino
type: Population
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allele frequency: 1.729505361466621e-4
allele num: 11564
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
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African
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allele frequency: 3.872966692486445e-4
allele num: 10328
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66438
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FS
type: SiteQuality
SIO_000300: 5.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.255e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.63e-1

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.471e1

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
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South Asian
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.802e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
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African
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allele num: 10338
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 1.111111111111111e-3
allele num: 900
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European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.512906913773392e-4
allele num: 66476
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South Asian
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allele frequency: 6.662628709872804e-4
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.97e-1

DP
type: SiteQuality
SIO_000300: 2.235392e6

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.272e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
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African
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South Asian
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allele count: 0
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.014314067480604e-5
allele num: 66508
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Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e0

QD
type: SiteQuality
SIO_000300: 3.72e0

South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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Other
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African
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allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66498
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Latino
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allele count: 0
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FS
type: SiteQuality
SIO_000300: 1.033e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.870000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-2

MQ
type: SiteQuality
SIO_000300: 5.907e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.23219e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.244e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66502
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Latino
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allele frequency: 8.652015919709292e-5
allele num: 11558
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South Asian
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East Asian
type: Population
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Other
type: Population
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MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 2.232062e6

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e-1

FS
type: SiteQuality
SIO_000300: 3.661e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.56e0

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
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allele num: 11558
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South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
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Other
type: Population
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allele num: 900
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MQ
type: SiteQuality
SIO_000300: 5.892e1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
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African
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East Asian
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Latino
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allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
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Other
type: Population
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DP
type: SiteQuality
SIO_000300: 2.231982e6

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.16e-1

ReadPosRankSum
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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East Asian
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allele count: 0
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African
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.96e-1

DP
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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MQ
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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East Asian
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allele count: 0
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European (Non-Finnish)
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
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FS
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MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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MQ
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DP
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

European (Finnish)
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East Asian
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African
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Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
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InbreedingCoeff
type: SiteQuality
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MQ
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DP
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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East Asian
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African
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allele frequency: 9.67305088024763e-5
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Latino
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
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Other
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South Asian
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VQSLOD
type: SiteQuality
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MQ
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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ClippingRankSum
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DP
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QD
type: SiteQuality
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European (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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South Asian
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Other
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FS
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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MQRankSum
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DP
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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Other
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South Asian
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MQ
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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QD
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

East Asian
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African
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allele frequency: 9.676795045480937e-5
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Latino
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South Asian
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European (Finnish)
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allele frequency: 1.523461304082876e-4
allele num: 6564
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Other
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.161e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

QD
type: SiteQuality
SIO_000300: 1.125e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 2.231721e6

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

European (Finnish)
type: Population
allele count: 3099
allele frequency: 4.732742822235797e-1
allele num: 6548
num of homozygotes: 739

South Asian
type: Population
allele count: 7832
allele frequency: 4.748969197186514e-1
allele num: 16492
num of homozygotes: 1889

Other
type: Population
allele count: 373
allele frequency: 4.144444444444444e-1
allele num: 900
num of homozygotes: 71

Latino
type: Population
allele count: 3228
allele frequency: 2.799653078924544e-1
allele num: 11530
num of homozygotes: 483

East Asian
type: Population
allele count: 655
allele frequency: 7.603900626886465e-2
allele num: 8614
num of homozygotes: 20

European (Non-Finnish)
type: Population
allele count: 32126
allele frequency: 4.834612490594432e-1
allele num: 66450
num of homozygotes: 7733

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.56e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 1.162e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

DP
type: SiteQuality
SIO_000300: 2.921519e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

QD
type: SiteQuality
SIO_000300: 1.856e1

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.034809262237868e-5
allele num: 65902
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.875076173065204e-4
allele num: 16410
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

DP
type: SiteQuality
SIO_000300: 1.717721e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.49e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.535e0

European (Non-Finnish)
type: Population
allele count: 2482
allele frequency: 3.778698008647464e-2
allele num: 65684
num of homozygotes: 35

European (Finnish)
type: Population
allele count: 140
allele frequency: 2.204724409448819e-2
allele num: 6350
num of homozygotes: 0

Latino
type: Population
allele count: 254
allele frequency: 2.213314743813175e-2
allele num: 11476
num of homozygotes: 4

East Asian
type: Population
allele count: 6
allele frequency: 6.984866123399302e-4
allele num: 8590
num of homozygotes: 0

Other
type: Population
allele count: 38
allele frequency: 4.288939051918736e-2
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 1857
allele frequency: 1.819874558996472e-1
allele num: 10204
num of homozygotes: 196

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.33e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.184e0

FS
type: SiteQuality
SIO_000300: 2.851e0

DP
type: SiteQuality
SIO_000300: 1.744627e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.908838684106223e-5
allele num: 10092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65458
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.025e0

DP
type: SiteQuality
SIO_000300: 1.608527e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.5055e1

VQSLOD
type: SiteQuality
SIO_000300: -1.973e0

Latino
type: Population
allele count: 3
allele frequency: 2.625131256562828e-4
allele num: 11428
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.230163611760364e-4
allele num: 16258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.226316757618493e-4
allele num: 65236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

FS
type: SiteQuality
SIO_000300: 1.953e0

DP
type: SiteQuality
SIO_000300: 1.59928e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

QD
type: SiteQuality
SIO_000300: 1.059e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.334812047630166e-4
allele num: 8566
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.869e1

MQRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 9.119999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.994e0

FS
type: SiteQuality
SIO_000300: 2.475e0

VQSLOD
type: SiteQuality
SIO_000300: -3.295e-1

DP
type: SiteQuality
SIO_000300: 1.586424e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65082
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.176652254478072e-5
allele num: 16190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.585729e6

QD
type: SiteQuality
SIO_000300: 1.238e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 5.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.47e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.01461038961039e-4
allele num: 9856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.397645743392241e-4
allele num: 64394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.838607035531201e-5
allele num: 11314
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 1.55572e6

FS
type: SiteQuality
SIO_000300: 4.244e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556565593674117e-5
allele num: 64244
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.276675872457946e-5
allele num: 15932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.924e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.317e-1

QD
type: SiteQuality
SIO_000300: 1.034e1

DP
type: SiteQuality
SIO_000300: 1.547605e6

FS
type: SiteQuality
SIO_000300: 1.0015e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.68427955780401e-5
allele num: 64044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.882572392965002e-5
allele num: 11258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.659e0

FS
type: SiteQuality
SIO_000300: 8.070000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.537285e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.53e-1

QD
type: SiteQuality
SIO_000300: 7.48e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61988
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.512960791976033e-5
allele num: 15354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5758
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.369e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.079e0

DP
type: SiteQuality
SIO_000300: 1.436123e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.023e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.614361358646519e-5
allele num: 61944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15322
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.173e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.56e-1

FS
type: SiteQuality
SIO_000300: 7.334e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.85e1

VQSLOD
type: SiteQuality
SIO_000300: -2.377e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.171e0

DP
type: SiteQuality
SIO_000300: 1.430706e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9372
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.580679126085812e-5
allele num: 15196
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.408745e6

MQ
type: SiteQuality
SIO_000300: 5.916e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.277e0

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14928
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 1.346289e6

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.912e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14928
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.66267624368183e-5
allele num: 60144
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.912e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

DP
type: SiteQuality
SIO_000300: 1.346289e6

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

QD
type: SiteQuality
SIO_000300: 1.303e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.750332563187006e-5
allele num: 57132
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.126e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.96e-1

DP
type: SiteQuality
SIO_000300: 1.176642e6