12-113321258-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113321258
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113321258
    reference: chr 12
allele count: 1
allele frequency: 1.184160666919288e-5
allele num: 84448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1424+51G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1289+51G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1436+51G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2438+51G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1436+51G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1436+51G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.44+51G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1289+51G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1436+51G>A
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10701
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

12-113325560-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325560
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325560
    reference: chr 12
allele count: 3
allele frequency: 2.500666844491865e-5
allele num: 119968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1437-42T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1290-42T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1437-42T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1425-42T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2439-42T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.45-42T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1290-42T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1437-42T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1437-42T>C
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42396
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

12-113325566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325566
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325566
    reference: chr 12
allele count: 1
allele frequency: 8.333888925928395e-6
allele num: 119992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1437-36C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1437-36C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1425-36C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1290-36C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1437-36C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1437-36C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1290-36C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2439-36C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.45-36C>T
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42396
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52840
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

12-113325570-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325570
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325570
    reference: chr 12
allele count: 1
allele frequency: 8.326671995736744e-6
allele num: 120096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1437-32T>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1290-32T>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1437-32T>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2439-32T>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1290-32T>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.45-32T>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1437-32T>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1425-32T>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1437-32T>A
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42396
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

12-113325582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325582
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325582
    reference: chr 12
allele count: 16
allele frequency: 1.32890365448505e-4
allele num: 120400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1437-20C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2439-20C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1437-20C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1437-20C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1290-20C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.45-20C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1290-20C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1437-20C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1425-20C>T
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42396
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

12-113325584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325584
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325584
    reference: chr 12
allele count: 1
allele frequency: 8.297791128001726e-6
allele num: 120514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1437-18C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1290-18C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1437-18C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1290-18C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2439-18C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1425-18C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1437-18C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.45-18C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1437-18C>T
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42396
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52846
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-113325585-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325585
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325585
    reference: chr 12
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1437-17C>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2439-17C>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1437-17C>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1437-17C>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.45-17C>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1425-17C>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1290-17C>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1290-17C>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1437-17C>G
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42396
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

12-113325589-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325589
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325589
    reference: chr 12
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2439-13G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.45-13G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1290-13G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1437-13G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1437-13G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1290-13G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1425-13G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1437-13G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1437-13G>C
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42396
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP

12-113325590-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325590
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325590
    reference: chr 12
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.45-12T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2439-12T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1425-12T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1437-12T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1437-12T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1437-12T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1437-12T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1290-12T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1290-12T>C
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42396
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

12-113325593-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325593
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325593
    reference: chr 12
allele count: 1
allele frequency: 8.278282753025713e-6
allele num: 120798
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.45-9T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1437-9T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1437-9T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1437-9T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2439-9T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1437-9T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1290-9T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1290-9T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1425-9T>C
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42397
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52851
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

12-113325608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325608
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325608
    reference: chr 12
allele count: 5
allele frequency: 4.127592127856294e-5
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.51C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1443C>T
  hgvsp: ENST00000420983.2:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1431C>T
  hgvsp: ENST00000551052.1:c.1431C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2445C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1443C>T
  hgvsp: ENST00000389385.4:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1443C>T
  hgvsp: ENST00000415485.3:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1443C>T
  hgvsp: ENST00000543106.2:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1296C>T
  hgvsp: ENST00000548866.1:c.1296C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1296C>T
  hgvsp: ENST00000447659.2:c.1296C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42397
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52886
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Ser481Ser
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-113325609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325609
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325609
    reference: chr 12
allele count: 4
allele frequency: 3.301528607745386e-5
allele num: 121156
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1444G>A
  hgvsp: ENSP00000374036.4:p.Val482Ile
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.52G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2446G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1432G>A
  hgvsp: ENSP00000448297.1:p.Val478Ile
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1297G>A
  hgvsp: ENSP00000450347.1:p.Val433Ile
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1444G>A
  hgvsp: ENSP00000440384.2:p.Val482Ile
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1444G>A
  hgvsp: ENSP00000408889.2:p.Val482Ile
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1444G>A
  hgvsp: ENSP00000405357.3:p.Val482Ile
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1297G>A
  hgvsp: ENSP00000413254.2:p.Val433Ile
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42397
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val482Ile
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-113325611-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325611
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325611
    reference: chr 12
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1446C>T
  hgvsp: ENST00000389385.4:c.1446C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.54C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1446C>T
  hgvsp: ENST00000420983.2:c.1446C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1299C>T
  hgvsp: ENST00000548866.1:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1446C>T
  hgvsp: ENST00000543106.2:c.1446C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1434C>T
  hgvsp: ENST00000551052.1:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1446C>T
  hgvsp: ENST00000415485.3:c.1446C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1299C>T
  hgvsp: ENST00000447659.2:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2448C>T
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42397
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val482Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-113325624-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325624
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325624
    reference: chr 12
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1459A>C
  hgvsp: ENSP00000408889.2:p.Lys487Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.67A>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1312A>C
  hgvsp: ENSP00000450347.1:p.Lys438Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1312A>C
  hgvsp: ENSP00000413254.2:p.Lys438Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1447A>C
  hgvsp: ENSP00000448297.1:p.Lys483Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1459A>C
  hgvsp: ENSP00000374036.4:p.Lys487Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1459A>C
  hgvsp: ENSP00000405357.3:p.Lys487Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2461A>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1459A>C
  hgvsp: ENSP00000440384.2:p.Lys487Gln
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42397
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys487Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

12-113325625-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325625
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325625
    reference: chr 12
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1460A>G
  hgvsp: ENSP00000405357.3:p.Lys487Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1313A>G
  hgvsp: ENSP00000450347.1:p.Lys438Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1460A>G
  hgvsp: ENSP00000408889.2:p.Lys487Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2462A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1460A>G
  hgvsp: ENSP00000374036.4:p.Lys487Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1460A>G
  hgvsp: ENSP00000440384.2:p.Lys487Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1313A>G
  hgvsp: ENSP00000413254.2:p.Lys438Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1448A>G
  hgvsp: ENSP00000448297.1:p.Lys483Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.68A>G
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42398
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys487Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

12-113325629-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325629
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325629
    reference: chr 12
allele count: 51798
allele frequency: 4.269042477788584e-1
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1317T>C
  hgvsp: ENST00000447659.2:c.1317T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1464T>C
  hgvsp: ENST00000415485.3:c.1464T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.72T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1317T>C
  hgvsp: ENST00000548866.1:c.1317T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2466T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1464T>C
  hgvsp: ENST00000543106.2:c.1464T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1464T>C
  hgvsp: ENST00000389385.4:c.1464T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1464T>C
  hgvsp: ENST00000420983.2:c.1464T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1452T>C
  hgvsp: ENST00000551052.1:c.1452T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 7.75e1
  variant carriers: 319
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.25e1
  variant carriers: 199
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 7.25e1
  variant carriers: 395
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 8.25e1
  variant carriers: 251
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 3.75e1
  variant carriers: 349
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 2.75e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 598
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 494
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.25e1
  variant carriers: 660
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.75e1
  variant carriers: 513
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 688
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 8.75e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 9.25e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 659
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 44807
  bin: 9.75e1
  variant carriers: 34520
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 4
hgvs: p.Phe488Phe
num of homozygotes: 11485
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

12-113325652-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325652
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325652
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1475A>T
  hgvsp: ENSP00000448297.1:p.Glu492Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1340A>T
  hgvsp: ENSP00000413254.2:p.Glu447Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1487A>T
  hgvsp: ENSP00000405357.3:p.Glu496Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1487A>T
  hgvsp: ENSP00000440384.2:p.Glu496Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.95A>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1487A>T
  hgvsp: ENSP00000374036.4:p.Glu496Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1487A>T
  hgvsp: ENSP00000408889.2:p.Glu496Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1340A>T
  hgvsp: ENSP00000450347.1:p.Glu447Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2489A>T
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29801
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu496Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-113325655-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325655
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325655
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1490C>A
  hgvsp: ENSP00000440384.2:p.Thr497Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1478C>A
  hgvsp: ENSP00000448297.1:p.Thr493Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1343C>A
  hgvsp: ENSP00000413254.2:p.Thr448Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.98C>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1490C>A
  hgvsp: ENSP00000374036.4:p.Thr497Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1490C>A
  hgvsp: ENSP00000408889.2:p.Thr497Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1490C>A
  hgvsp: ENSP00000405357.3:p.Thr497Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1343C>A
  hgvsp: ENSP00000450347.1:p.Thr448Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2492C>A
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29801
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr497Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-113325657-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325657
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325657
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1492A>C
  hgvsp: ENST00000415485.3:c.1492A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1492A>C
  hgvsp: ENST00000543106.2:c.1492A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1345A>C
  hgvsp: ENST00000548866.1:c.1345A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1492A>C
  hgvsp: ENST00000420983.2:c.1492A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1480A>C
  hgvsp: ENST00000551052.1:c.1480A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2494A>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1492A>C
  hgvsp: ENST00000389385.4:c.1492A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1345A>C
  hgvsp: ENST00000447659.2:c.1345A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.100A>C
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29800
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg498Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-113325661-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325661
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325661
    reference: chr 12
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2498T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1496T>C
  hgvsp: ENSP00000405357.3:p.Phe499Ser
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1496T>C
  hgvsp: ENSP00000374036.4:p.Phe499Ser
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1349T>C
  hgvsp: ENSP00000413254.2:p.Phe450Ser
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.104T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1349T>C
  hgvsp: ENSP00000450347.1:p.Phe450Ser
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1496T>C
  hgvsp: ENSP00000440384.2:p.Phe499Ser
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1496T>C
  hgvsp: ENSP00000408889.2:p.Phe499Ser
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1484T>C
  hgvsp: ENSP00000448297.1:p.Phe495Ser
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29799
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5702
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe499Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

12-113325670-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325670
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325670
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1505A>G
  hgvsp: ENSP00000374036.4:p.Lys502Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1505A>G
  hgvsp: ENSP00000405357.3:p.Lys502Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2507A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1505A>G
  hgvsp: ENSP00000408889.2:p.Lys502Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1358A>G
  hgvsp: ENSP00000413254.2:p.Lys453Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1505A>G
  hgvsp: ENSP00000440384.2:p.Lys502Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.113A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1358A>G
  hgvsp: ENSP00000450347.1:p.Lys453Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1493A>G
  hgvsp: ENSP00000448297.1:p.Lys498Arg
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29798
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys502Arg
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-113325673-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325673
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325673
    reference: chr 12
allele count: 4
allele frequency: 3.295001482750667e-5
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1496A>G
  hgvsp: ENSP00000448297.1:p.Lys499Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1508A>G
  hgvsp: ENSP00000440384.2:p.Lys503Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1361A>G
  hgvsp: ENSP00000413254.2:p.Lys454Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.116A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1361A>G
  hgvsp: ENSP00000450347.1:p.Lys454Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2510A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1508A>G
  hgvsp: ENSP00000374036.4:p.Lys503Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1508A>G
  hgvsp: ENSP00000405357.3:p.Lys503Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1508A>G
  hgvsp: ENSP00000408889.2:p.Lys503Arg
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29798
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys503Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

12-113325691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325691
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325691
    reference: chr 12
allele count: 7
allele frequency: 5.766537606063102e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1526G>A
  hgvsp: ENSP00000408889.2:p.Arg509Lys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1526G>A
  hgvsp: ENSP00000405357.3:p.Arg509Lys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1526G>A
  hgvsp: ENSP00000440384.2:p.Arg509Lys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.134G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2528G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1379G>A
  hgvsp: ENSP00000450347.1:p.Arg460Lys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1379G>A
  hgvsp: ENSP00000413254.2:p.Arg460Lys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1514G>A
  hgvsp: ENSP00000448297.1:p.Arg505Lys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1526G>A
  hgvsp: ENSP00000374036.4:p.Arg509Lys
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29797
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg509Lys
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

12-113325695-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325695
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325695
    reference: chr 12
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.138G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1530G>A
  hgvsp: ENST00000420983.2:c.1530G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1530G>A
  hgvsp: ENST00000415485.3:c.1530G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1530G>A
  hgvsp: ENST00000389385.4:c.1530G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1518G>A
  hgvsp: ENST00000551052.1:c.1518G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1383G>A
  hgvsp: ENST00000447659.2:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1383G>A
  hgvsp: ENST00000548866.1:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1530G>A
  hgvsp: ENST00000543106.2:c.1530G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2532G>A
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys510Lys
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-113325698-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325698
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325698
    reference: chr 12
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1533T>C
  hgvsp: ENST00000420983.2:c.1533T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1533T>C
  hgvsp: ENST00000543106.2:c.1533T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2535T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1386T>C
  hgvsp: ENST00000548866.1:c.1386T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1386T>C
  hgvsp: ENST00000447659.2:c.1386T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1521T>C
  hgvsp: ENST00000551052.1:c.1521T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1533T>C
  hgvsp: ENST00000389385.4:c.1533T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1533T>C
  hgvsp: ENST00000415485.3:c.1533T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.141T>C
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29792
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn511Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-113325699-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325699
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325699
    reference: chr 12
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1534T>G
  hgvsp: ENSP00000405357.3:p.Phe512Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1534T>G
  hgvsp: ENSP00000440384.2:p.Phe512Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1387T>G
  hgvsp: ENSP00000413254.2:p.Phe463Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1534T>G
  hgvsp: ENSP00000374036.4:p.Phe512Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.142T>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1522T>G
  hgvsp: ENSP00000448297.1:p.Phe508Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1387T>G
  hgvsp: ENSP00000450347.1:p.Phe463Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1534T>G
  hgvsp: ENSP00000408889.2:p.Phe512Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2536T>G
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29791
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe512Val
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

12-113325706-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325706
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325706
    reference: chr 12
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1529T>A
  hgvsp: ENSP00000448297.1:p.Ile510Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1541T>A
  hgvsp: ENSP00000408889.2:p.Ile514Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1541T>A
  hgvsp: ENSP00000440384.2:p.Ile514Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2543T>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.149T>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1541T>A
  hgvsp: ENSP00000374036.4:p.Ile514Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1394T>A
  hgvsp: ENSP00000450347.1:p.Ile465Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1541T>A
  hgvsp: ENSP00000405357.3:p.Ile514Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1394T>A
  hgvsp: ENSP00000413254.2:p.Ile465Asn
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29791
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile514Asn
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-113325712-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325712
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325712
    reference: chr 12
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2549T>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1547T>G
  hgvsp: ENSP00000374036.4:p.Leu516Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1547T>G
  hgvsp: ENSP00000440384.2:p.Leu516Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1400T>G
  hgvsp: ENSP00000413254.2:p.Leu467Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1400T>G
  hgvsp: ENSP00000450347.1:p.Leu467Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1547T>G
  hgvsp: ENSP00000408889.2:p.Leu516Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.155T>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1547T>G
  hgvsp: ENSP00000405357.3:p.Leu516Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1535T>G
  hgvsp: ENSP00000448297.1:p.Leu512Arg
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29791
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu516Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

12-113325717-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325717
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325717
    reference: chr 12
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1405C>T
  hgvsp: ENSP00000450347.1:p.Arg469Ter
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1552C>T
  hgvsp: ENSP00000405357.3:p.Arg518Ter
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1405C>T
  hgvsp: ENSP00000413254.2:p.Arg469Ter
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1540C>T
  hgvsp: ENSP00000448297.1:p.Arg514Ter
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1552C>T
  hgvsp: ENSP00000374036.4:p.Arg518Ter
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1552C>T
  hgvsp: ENSP00000440384.2:p.Arg518Ter
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.160C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1552C>T
  hgvsp: ENSP00000408889.2:p.Arg518Ter
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2554C>T
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29791
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg518Ter
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

12-113325718-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325718
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325718
    reference: chr 12
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1553G>A
  hgvsp: ENSP00000408889.2:p.Arg518Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1406G>A
  hgvsp: ENSP00000450347.1:p.Arg469Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1541G>A
  hgvsp: ENSP00000448297.1:p.Arg514Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1406G>A
  hgvsp: ENSP00000413254.2:p.Arg469Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1553G>A
  hgvsp: ENSP00000405357.3:p.Arg518Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1553G>A
  hgvsp: ENSP00000374036.4:p.Arg518Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.161G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1553G>A
  hgvsp: ENSP00000440384.2:p.Arg518Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2555G>A
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg518Gln
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-113325718-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325718
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325718
    reference: chr 12
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1406G>T
  hgvsp: ENSP00000450347.1:p.Arg469Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1553G>T
  hgvsp: ENSP00000374036.4:p.Arg518Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1553G>T
  hgvsp: ENSP00000440384.2:p.Arg518Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1553G>T
  hgvsp: ENSP00000408889.2:p.Arg518Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1553G>T
  hgvsp: ENSP00000405357.3:p.Arg518Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2555G>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.161G>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1406G>T
  hgvsp: ENSP00000413254.2:p.Arg469Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1541G>T
  hgvsp: ENSP00000448297.1:p.Arg514Leu
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29790
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg518Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

12-113325727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325727
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325727
    reference: chr 12
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1415C>T
  hgvsp: ENSP00000413254.2:p.Pro472Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1562C>T
  hgvsp: ENSP00000408889.2:p.Pro521Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2564C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1550C>T
  hgvsp: ENSP00000448297.1:p.Pro517Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1562C>T
  hgvsp: ENSP00000440384.2:p.Pro521Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1562C>T
  hgvsp: ENSP00000374036.4:p.Pro521Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1415C>T
  hgvsp: ENSP00000450347.1:p.Pro472Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1562C>T
  hgvsp: ENSP00000405357.3:p.Pro521Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.170C>T
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29789
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro521Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-113325749-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325749
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325749
    reference: chr 12
allele count: 1
allele frequency: 8.289811821271656e-6
allele num: 120630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1563+21G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1563+21G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1416+21G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.171+21G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1551+21G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2565+21G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1563+21G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1563+21G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1416+21G>A
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29789
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-113325754-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325754
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325754
    reference: chr 12
allele count: 1
allele frequency: 8.295450774795103e-6
allele num: 120548
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1551+26G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.171+26G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1563+26G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1416+26G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1563+26G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1563+26G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2565+26G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1563+26G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1416+26G>C
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29789
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

12-113325756-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325756
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325756
    reference: chr 12
allele count: 1
allele frequency: 8.297791128001726e-6
allele num: 120514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1416+28T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1563+28T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1563+28T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2565+28T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.171+28T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1416+28T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1563+28T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1563+28T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1551+28T>C
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29789
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

12-113325757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325757
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325757
    reference: chr 12
allele count: 1
allele frequency: 8.304544246611745e-6
allele num: 120416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1563+29G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1563+29G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1563+29G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1551+29G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2565+29G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1416+29G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1416+29G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.171+29G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1563+29G>A
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29789
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-113325758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325758
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325758
    reference: chr 12
allele count: 66
allele frequency: 5.480362036037532e-4
allele num: 120430
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1563+30G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2565+30G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1563+30G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1416+30G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.171+30G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1563+30G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1416+30G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1563+30G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1551+30G>A
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29788
  bin: 9.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

12-113325758-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325758
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325758
    reference: chr 12
allele count: 2
allele frequency: 1.660715768496222e-5
allele num: 120430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1563+30G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1551+30G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1416+30G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.171+30G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2565+30G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1563+30G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1563+30G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1563+30G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1416+30G>C
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29788
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

12-113325764-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325764
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325764
    reference: chr 12
allele count: 3
allele frequency: 2.497585667188385e-5
allele num: 120116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2565+36G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1416+36G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1563+36G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1551+36G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1416+36G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1563+36G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.171+36G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1563+36G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1563+36G>A
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29760
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/12-113325770-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325770
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325770
    reference: chr 12
allele count: 3
allele frequency: 2.498168010125908e-5
allele num: 120088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1563+42A>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1416+42A>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1416+42A>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1563+42A>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1551+42A>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.171+42A>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1563+42A>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2565+42A>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1563+42A>C
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29759
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

12-113325771-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325771
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325771
    reference: chr 12
allele count: 4
allele frequency: 3.333111125924938e-5
allele num: 120008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1563+43T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1551+43T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2565+43T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1416+43T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1563+43T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1563+43T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.171+43T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1563+43T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1416+43T>C
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29758
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51427
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

12-113325775-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325775
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325775
    reference: chr 12
allele count: 1
allele frequency: 8.340283569641367e-6
allele num: 119900
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1563+47G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1563+47G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2565+47G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1563+47G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1416+47G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.171+47G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1563+47G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1416+47G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1551+47G>C
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29758
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

12-113325777-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325777
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325777
    reference: chr 12
allele count: 1
allele frequency: 8.346548702111677e-6
allele num: 119810
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1563+49G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1563+49G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1416+49G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1563+49G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2565+49G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.171+49G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1563+49G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1416+49G>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1551+49G>C
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29758
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51429
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

12-113325779-G-GCTGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325779
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325783
    reference: chr 12
allele count: 3
allele frequency: 2.505344735435596e-5
allele num: 119744
alternate allele: GCTGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1551+54_1551+57dupGCCT
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.171+54_171+57dupGCCT
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1563+54_1563+57dupGCCT
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1416+54_1416+57dupGCCT
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1563+54_1563+57dupGCCT
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1563+54_1563+57dupGCCT
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1416+54_1416+57dupGCCT
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2565+54_2565+57dupGCCT
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1563+54_1563+57dupGCCT
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29756
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

12-113325779-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325779
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113325779
    reference: chr 12
allele count: 1
allele frequency: 8.351149118118652e-6
allele num: 119744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1563+51G>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1563+51G>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1416+51G>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.171+51G>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1563+51G>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1416+51G>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2565+51G>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1563+51G>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1551+51G>T
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29756
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-113327779-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327779
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327779
    reference: chr 12
allele count: 46
allele frequency: 3.797447454884673e-4
allele num: 121134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1417-50A>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1564-50A>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1564-50A>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2566-50A>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.172-50A>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1564-50A>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1552-50A>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1564-50A>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1417-50A>T
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27463
  bin: 9.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-113327780-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327780
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327780
    reference: chr 12
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1564-49G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1417-49G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2566-49G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1564-49G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1564-49G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1552-49G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.172-49G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1417-49G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1564-49G>A
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

12-113327781-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327781
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327781
    reference: chr 12
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1417-48A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1564-48A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1552-48A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.172-48A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1564-48A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1564-48A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1417-48A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2566-48A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1564-48A>G
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27448
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

12-113327787-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327787
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327787
    reference: chr 12
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.172-42T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1564-42T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1564-42T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2566-42T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1417-42T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1417-42T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1564-42T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1564-42T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1552-42T>C
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27448
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

12-113327790-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327790
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327790
    reference: chr 12
allele count: 5
allele frequency: 4.126229616425695e-5
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.172-39A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1564-39A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1417-39A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1564-39A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1564-39A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1552-39A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1417-39A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2566-39A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1564-39A>G
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27448
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

12-113327791-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327791
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327791
    reference: chr 12
allele count: 20
allele frequency: 1.650410126916539e-4
allele num: 121182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1564-38T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1417-38T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1564-38T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1417-38T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.172-38T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1552-38T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2566-38T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1564-38T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1564-38T>C
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27447
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-113327795-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327795
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327795
    reference: chr 12
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1564-34C>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1564-34C>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2566-34C>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1564-34C>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1564-34C>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1417-34C>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.172-34C>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1417-34C>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1552-34C>A
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27440
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

12-113327799-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327799
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327799
    reference: chr 12
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.172-30G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1417-30G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1552-30G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1564-30G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1564-30G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1564-30G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2566-30G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1564-30G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1417-30G>A
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27441
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-113327813-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327813
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327813
    reference: chr 12
allele count: 2
allele frequency: 1.648695881557688e-5
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1417-16G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1552-16G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1564-16G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.172-16G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1564-16G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2566-16G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1564-16G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1564-16G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1417-16G>A
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27440
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52881
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-113327821-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327821
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327820
    reference: chr 12
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1552-4delT
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2566-4delT
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1417-4delT
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.172-4delT
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1417-4delT
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1564-4delT
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1564-4delT
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1564-4delT
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1564-4delT
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27440
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1564-4delT
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: CT
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

12-113327825-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327825
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327825
    reference: chr 12
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1564-4T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1564-4T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2566-4T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1417-4T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1564-4T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1417-4T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.172-4T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1564-4T>C
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1552-4T>C
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27440
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1564-4T>C
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-113327834-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327834
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327834
    reference: chr 12
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1569A>T
  hgvsp: ENSP00000374036.4:p.Lys523Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1569A>T
  hgvsp: ENSP00000405357.3:p.Lys523Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1569A>T
  hgvsp: ENSP00000408889.2:p.Lys523Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1422A>T
  hgvsp: ENSP00000450347.1:p.Lys474Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1569A>T
  hgvsp: ENSP00000440384.2:p.Lys523Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1422A>T
  hgvsp: ENSP00000413254.2:p.Lys474Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1557A>T
  hgvsp: ENSP00000448297.1:p.Lys519Asn
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2571A>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.177A>T
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27439
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys523Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

12-113327835-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327835
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327835
    reference: chr 12
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1570C>T
  hgvsp: ENSP00000440384.2:p.Arg524Cys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1570C>T
  hgvsp: ENSP00000408889.2:p.Arg524Cys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1570C>T
  hgvsp: ENSP00000374036.4:p.Arg524Cys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1558C>T
  hgvsp: ENSP00000448297.1:p.Arg520Cys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1423C>T
  hgvsp: ENSP00000450347.1:p.Arg475Cys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1423C>T
  hgvsp: ENSP00000413254.2:p.Arg475Cys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.178C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2572C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1570C>T
  hgvsp: ENSP00000405357.3:p.Arg524Cys
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27438
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg524Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-113327836-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327836
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327836
    reference: chr 12
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1571G>A
  hgvsp: ENSP00000374036.4:p.Arg524His
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1571G>A
  hgvsp: ENSP00000405357.3:p.Arg524His
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.179G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1424G>A
  hgvsp: ENSP00000450347.1:p.Arg475His
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1424G>A
  hgvsp: ENSP00000413254.2:p.Arg475His
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1571G>A
  hgvsp: ENSP00000440384.2:p.Arg524His
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1571G>A
  hgvsp: ENSP00000408889.2:p.Arg524His
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1559G>A
  hgvsp: ENSP00000448297.1:p.Arg520His
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2573G>A
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27437
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg524His
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

12-113327836-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327836
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327836
    reference: chr 12
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1571G>T
  hgvsp: ENSP00000440384.2:p.Arg524Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1424G>T
  hgvsp: ENSP00000413254.2:p.Arg475Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1571G>T
  hgvsp: ENSP00000408889.2:p.Arg524Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1559G>T
  hgvsp: ENSP00000448297.1:p.Arg520Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1571G>T
  hgvsp: ENSP00000374036.4:p.Arg524Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1571G>T
  hgvsp: ENSP00000405357.3:p.Arg524Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1424G>T
  hgvsp: ENSP00000450347.1:p.Arg475Leu
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.179G>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2573G>T
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27437
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg524Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

12-113327848-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327848
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327848
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1571C>G
  hgvsp: ENSP00000448297.1:p.Thr524Ser
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1436C>G
  hgvsp: ENSP00000450347.1:p.Thr479Ser
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1583C>G
  hgvsp: ENSP00000405357.3:p.Thr528Ser
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1583C>G
  hgvsp: ENSP00000408889.2:p.Thr528Ser
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1583C>G
  hgvsp: ENSP00000374036.4:p.Thr528Ser
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1583C>G
  hgvsp: ENSP00000440384.2:p.Thr528Ser
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2585C>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1436C>G
  hgvsp: ENSP00000413254.2:p.Thr479Ser
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.191C>G
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27436
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr528Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

12-113327849-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327849
    reference: chr 12
allele count: 266
allele frequency: 2.191103789126854e-3
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1437C>T
  hgvsp: ENST00000548866.1:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1584C>T
  hgvsp: ENST00000420983.2:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1437C>T
  hgvsp: ENST00000447659.2:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1584C>T
  hgvsp: ENST00000543106.2:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1584C>T
  hgvsp: ENST00000389385.4:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1584C>T
  hgvsp: ENST00000415485.3:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.192C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2586C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1572C>T
  hgvsp: ENST00000551052.1:c.1572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27440
  bin: 9.75e1
  variant carriers: 244
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr528Thr
num of homozygotes: 1
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

12-113327850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327850
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327850
    reference: chr 12
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1585G>A
  hgvsp: ENSP00000440384.2:p.Gly529Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1585G>A
  hgvsp: ENSP00000374036.4:p.Gly529Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.193G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1585G>A
  hgvsp: ENSP00000408889.2:p.Gly529Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1438G>A
  hgvsp: ENSP00000413254.2:p.Gly480Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1438G>A
  hgvsp: ENSP00000450347.1:p.Gly480Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2587G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1573G>A
  hgvsp: ENSP00000448297.1:p.Gly525Arg
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1585G>A
  hgvsp: ENSP00000405357.3:p.Gly529Arg
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27283
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly529Arg
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-113327857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327857
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327857
    reference: chr 12
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1580C>T
  hgvsp: ENSP00000448297.1:p.Ala527Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1592C>T
  hgvsp: ENSP00000405357.3:p.Ala531Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.200C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1592C>T
  hgvsp: ENSP00000408889.2:p.Ala531Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1445C>T
  hgvsp: ENSP00000413254.2:p.Ala482Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1592C>T
  hgvsp: ENSP00000374036.4:p.Ala531Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1592C>T
  hgvsp: ENSP00000440384.2:p.Ala531Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1445C>T
  hgvsp: ENSP00000450347.1:p.Ala482Val
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2594C>T
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27281
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala531Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

12-113327860-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327860
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327860
    reference: chr 12
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1448G>A
  hgvsp: ENSP00000413254.2:p.Arg483Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1595G>A
  hgvsp: ENSP00000440384.2:p.Arg532Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.203G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1448G>A
  hgvsp: ENSP00000450347.1:p.Arg483Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1583G>A
  hgvsp: ENSP00000448297.1:p.Arg528Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1595G>A
  hgvsp: ENSP00000408889.2:p.Arg532Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1595G>A
  hgvsp: ENSP00000374036.4:p.Arg532Gln
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2597G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1595G>A
  hgvsp: ENSP00000405357.3:p.Arg532Gln
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27280
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg532Gln
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

12-113327877-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327877
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327877
    reference: chr 12
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1465G>A
  hgvsp: ENSP00000413254.2:p.Glu489Lys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1612G>A
  hgvsp: ENSP00000440384.2:p.Glu538Lys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1612G>A
  hgvsp: ENSP00000374036.4:p.Glu538Lys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.220G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1465G>A
  hgvsp: ENSP00000450347.1:p.Glu489Lys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1612G>A
  hgvsp: ENSP00000408889.2:p.Glu538Lys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1612G>A
  hgvsp: ENSP00000405357.3:p.Glu538Lys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1600G>A
  hgvsp: ENSP00000448297.1:p.Glu534Lys
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2614G>A
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27278
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu538Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-113327888-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327888
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327888
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1473+3G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1620+3G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.228+3G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1620+3G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1608+3G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1473+3G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1620+3G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1620+3G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2622+3G>A
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1620+3G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-113327891-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327891
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327891
    reference: chr 12
allele count: 6
allele frequency: 4.942827956634923e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.228+6C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1620+6C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1608+6C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1473+6C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1620+6C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1473+6C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1620+6C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2622+6C>T
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1620+6C>T
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27276
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1620+6C>T
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

12-113327901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327901
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327901
    reference: chr 12
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1473+16G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1620+16G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1620+16G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1608+16G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1620+16G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1620+16G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2622+16G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1473+16G>A
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.228+16G>A
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27275
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-113327912-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113327912
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113327912
    reference: chr 12
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000408889
  ensembl transcript: ENST00000420983
  gene symbol: RPH3A
  hgvsc: ENST00000420983.2:c.1620+27A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000413254
  ensembl transcript: ENST00000447659
  gene symbol: RPH3A
  hgvsc: ENST00000447659.2:c.1473+27A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000546687
  gene symbol: RPH3A
  hgvsc: ENST00000546687.1:n.228+27A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000448297
  ensembl transcript: ENST00000551052
  gene symbol: RPH3A
  hgvsc: ENST00000551052.1:c.1608+27A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000450347
  ensembl transcript: ENST00000548866
  gene symbol: RPH3A
  hgvsc: ENST00000548866.1:c.1473+27A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl transcript: ENST00000549913
  gene symbol: RPH3A
  hgvsc: ENST00000549913.2:n.2622+27A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000440384
  ensembl transcript: ENST00000543106
  gene symbol: RPH3A
  hgvsc: ENST00000543106.2:c.1620+27A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000405357
  ensembl transcript: ENST00000415485
  gene symbol: RPH3A
  hgvsc: ENST00000415485.3:c.1620+27A>G
  variant of: http://identifiers.org/hgnc/17056
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089169
  ensembl protein: ENSP00000374036
  ensembl transcript: ENST00000389385
  gene symbol: RPH3A
  hgvsc: ENST00000389385.4:c.1620+27A>G
  variant of: http://identifiers.org/hgnc/17056
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27275
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 13379
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2457
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5834
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7822
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5976
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1621
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6956
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.257642118571364e-5
allele num: 44294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.66e-1

FS
type: SiteQuality
SIO_000300: 2.57e0

DP
type: SiteQuality
SIO_000300: 9.18782e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 1.478e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: -5.333e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

GenotypeQuality
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52841
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 296
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.525706010137581e-5
allele num: 66288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-1

QD
type: SiteQuality
SIO_000300: 1.607e1

DP
type: SiteQuality
SIO_000300: 7.459425e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15630
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508523155830442e-5
allele num: 66290
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.408e1

VQSLOD
type: SiteQuality
SIO_000300: 4.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

FS
type: SiteQuality
SIO_000300: 2.144e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.127e0

DP
type: SiteQuality
SIO_000300: 7.464374e6

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52840
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15718
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 8.189e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

MQRankSum
type: SiteQuality
SIO_000300: 3.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 7.468643e6

QD
type: SiteQuality
SIO_000300: 1.362e1

MQ
type: SiteQuality
SIO_000300: 5.99e1

GenotypeQuality
all individuals: 254
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52845
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.108497243892888e-4
allele num: 66398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.403e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

QD
type: SiteQuality
SIO_000300: 1.155e1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 5.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

DP
type: SiteQuality
SIO_000300: 7.484229e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

GenotypeQuality
all individuals: 186
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3968
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

FS
type: SiteQuality
SIO_000300: 5.057e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 7.486593e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.384e0

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.63e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.94e-1

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 265
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52846
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4059
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16024
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: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.402e0

DP
type: SiteQuality
SIO_000300: 7.487707e6

MQ
type: SiteQuality
SIO_000300: 5.924e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.82e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.327e-1

QD
type: SiteQuality
SIO_000300: 1.017e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.68e-1

GenotypeQuality
all individuals: 4241
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504392827055001e-5
allele num: 66472
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16110
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.96e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.037e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.029e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

FS
type: SiteQuality
SIO_000300: 1.131e0

VQSLOD
type: SiteQuality
SIO_000300: 5.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.490802e6

GenotypeQuality
all individuals: 850
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 52850
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504528631179851e-5
allele num: 66466
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16118
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.4726e1

QD
type: SiteQuality
SIO_000300: 1.222e1

DP
type: SiteQuality
SIO_000300: 7.491567e6

MQRankSum
type: SiteQuality
SIO_000300: -6.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.75e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.146e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.003e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

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

GenotypeQuality
all individuals: 867
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
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variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
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variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 7.5e0
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4414
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66494
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 7.493299e6

MQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

FS
type: SiteQuality
SIO_000300: 3.256e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.4e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.97e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
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variant carriers: 0

GenotypeQuality
all individuals: 4666
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variant carriers: 0

GenotypeQuality
all individuals: 507
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21921482565228e-4
allele num: 16404
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.92270717169775e-4
allele num: 10402
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

DP
type: SiteQuality
SIO_000300: 7.501613e6

VQSLOD
type: SiteQuality
SIO_000300: -1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 3.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 2.434e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.25e-1

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 150
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variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 415
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.092360180333861e-5
allele num: 16414
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

DP
type: SiteQuality
SIO_000300: 7.502072e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.283e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 263
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 7.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 1.227e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 7.502884e6

QD
type: SiteQuality
SIO_000300: 1.384e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.679e0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.737e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 537
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 7.505513e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-1

FS
type: SiteQuality
SIO_000300: 1.908e0

QD
type: SiteQuality
SIO_000300: 1.338e1

MQRankSum
type: SiteQuality
SIO_000300: 7.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.22e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 538
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variant carriers: 0

GenotypeQuality
all individuals: 52905
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 997
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.381e0

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

QD
type: SiteQuality
SIO_000300: 1.652e1

DP
type: SiteQuality
SIO_000300: 7.505646e6

GenotypeQuality
all individuals: 132
bin: 8.25e1
variant carriers: 15

GenotypeQuality
all individuals: 1
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variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 9

GenotypeQuality
all individuals: 113
bin: 9.25e1
variant carriers: 19

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 120
bin: 7.25e1
variant carriers: 10

GenotypeQuality
all individuals: 392
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2108
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 57530
bin: 9.75e1
variant carriers: 40218

European (Finnish)
type: Population
allele count: 2077
allele frequency: 3.140308436649532e-1
allele num: 6614
num of homozygotes: 322

East Asian
type: Population
allele count: 5190
allele frequency: 6.016693716670531e-1
allele num: 8626
num of homozygotes: 1554

European (Non-Finnish)
type: Population
allele count: 25541
allele frequency: 3.829120566099967e-1
allele num: 66702
num of homozygotes: 4920

African
type: Population
allele count: 5311
allele frequency: 5.103786277147799e-1
allele num: 10406
num of homozygotes: 1339

Latino
type: Population
allele count: 6384
allele frequency: 5.51771823681936e-1
allele num: 11570
num of homozygotes: 1779

South Asian
type: Population
allele count: 6904
allele frequency: 4.182214683789678e-1
allele num: 16508
num of homozygotes: 1487

Other
type: Population
allele count: 391
allele frequency: 4.306167400881057e-1
allele num: 908
num of homozygotes: 84

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

QD
type: SiteQuality
SIO_000300: 2.019e1

DP
type: SiteQuality
SIO_000300: 8.885929e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.95e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
all individuals: 320
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 414
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
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GenotypeQuality
all individuals: 51458
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 8.75e1
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GenotypeQuality
all individuals: 0
bin: 2.5e0
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GenotypeQuality
all individuals: 7
bin: 5.25e1
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GenotypeQuality
all individuals: 0
bin: 1.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 487
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 5694
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

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

GenotypeQuality
all individuals: 550
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 5.603255e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

QD
type: SiteQuality
SIO_000300: 9.75e0

FS
type: SiteQuality
SIO_000300: 4.249e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 5.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.19e-1

GenotypeQuality
all individuals: 5693
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 51458
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 550
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 5.603154e6

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.719e0

QD
type: SiteQuality
SIO_000300: 1.191e1

GenotypeQuality
all individuals: 1551
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 320
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
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GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 51458
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5700
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 5.603157e6

VQSLOD
type: SiteQuality
SIO_000300: 3.64e-1

FS
type: SiteQuality
SIO_000300: 8.000999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.111e0

QD
type: SiteQuality
SIO_000300: 1.32e1

MQ
type: SiteQuality
SIO_000300: 5.982e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.388e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

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

GenotypeQuality
all individuals: 484
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GenotypeQuality
all individuals: 550
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
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GenotypeQuality
all individuals: 415
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GenotypeQuality
all individuals: 320
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 51459
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variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 5.603175e6

MQ
type: SiteQuality
SIO_000300: 5.877e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.232e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 3.796e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.418e1

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

GenotypeQuality
all individuals: 550
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 2.25e1
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GenotypeQuality
all individuals: 51458
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 320
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 5706
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GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
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variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.345e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

FS
type: SiteQuality
SIO_000300: 3.079e0

QD
type: SiteQuality
SIO_000300: 1.36e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 5.603102e6

VQSLOD
type: SiteQuality
SIO_000300: 1.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
all individuals: 190
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variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 4
allele frequency: 4.622140050843541e-4
allele num: 8654
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e-1

DP
type: SiteQuality
SIO_000300: 5.603156e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

FS
type: SiteQuality
SIO_000300: 1.748e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.49e1

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
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GenotypeQuality
all individuals: 320
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GenotypeQuality
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GenotypeQuality
all individuals: 26
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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GenotypeQuality
all individuals: 551
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variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 7
allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.291e1

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

DP
type: SiteQuality
SIO_000300: 5.602809e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 189
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 3.532e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.125e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.60195e6

QD
type: SiteQuality
SIO_000300: 1.206e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

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

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

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

DP
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SIO_000300: 5.601482e6

BaseQRankSum
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

ReadPosRankSum
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MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.363e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

MQ
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SIO_000300: 5.957e1

InbreedingCoeff
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SIO_000300: 0.0e0

ReadPosRankSum
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DP
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FS
type: SiteQuality
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MQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -3.97e-1

BaseQRankSum
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SIO_000300: 4.18e0

QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

South Asian
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allele count: 2
allele frequency: 1.214034235765449e-4
allele num: 16474
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.36e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
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DP
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SIO_000300: 5.59994e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.236e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.597e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.176e1

InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

DP
type: SiteQuality
SIO_000300: 5.596743e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

South Asian
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allele frequency: 6.100536847242558e-5
allele num: 16392
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

African
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

InbreedingCoeff
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FS
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MQRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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QD
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.992e1

MQRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.28e-1

FS
type: SiteQuality
SIO_000300: 3.464e0

QD
type: SiteQuality
SIO_000300: 1.428e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 5.584546e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

GenotypeQuality
all individuals: 525
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 312
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15980
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 3.741e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.797e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 5.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.373e0

DP
type: SiteQuality
SIO_000300: 5.559491e6

QD
type: SiteQuality
SIO_000300: 1.161e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.11e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 5.55455e6

QD
type: SiteQuality
SIO_000300: 1.596e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 1.841e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 311
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 51432
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2973
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.294850812035755e-5
allele num: 15886
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 5.552978e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

QD
type: SiteQuality
SIO_000300: 1.138e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e0

GenotypeQuality
all individuals: 427
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 373
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

FS
type: SiteQuality
SIO_000300: 8.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 5.548543e6

MQRankSum
type: SiteQuality
SIO_000300: 9.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.237e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.76e-1

QD
type: SiteQuality
SIO_000300: 1.326e1

GenotypeQuality
all individuals: 547
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 372
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 849
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2523
bin: 6.25e1
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GenotypeQuality
all individuals: 910
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
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GenotypeQuality
all individuals: 51440
bin: 9.75e1
variant carriers: 65

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

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 5.865896579731071e-4
allele num: 66486
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.32152117545376e-4
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 20
allele frequency: 1.264062697509796e-3
allele num: 15822
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 5.548108e6

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.33e0

FS
type: SiteQuality
SIO_000300: 6.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

QD
type: SiteQuality
SIO_000300: 1.428e1

GenotypeQuality
all individuals: 155
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 326
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 547
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GenotypeQuality
all individuals: 129
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variant carriers: 0

GenotypeQuality
all individuals: 51440
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 309
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.924557351809084e-4
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 5.548108e6

QD
type: SiteQuality
SIO_000300: 1.428e1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

FS
type: SiteQuality
SIO_000300: 6.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
all individuals: 721
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 225
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GenotypeQuality
all individuals: 1503
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.471418653089562e-4
allele num: 8642
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15596
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 5.536761e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

FS
type: SiteQuality
SIO_000300: 4.795e0

QD
type: SiteQuality
SIO_000300: 1.425e1

GenotypeQuality
all individuals: 1558
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.516711833785005e-5
allele num: 66420
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.52e0

FS
type: SiteQuality
SIO_000300: 9.389999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.584e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

DP
type: SiteQuality
SIO_000300: 5.535475e6

GenotypeQuality
all individuals: 1503
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 399
bin: 7.75e1
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GenotypeQuality
all individuals: 678
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.473830477072719e-4
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66396
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

FS
type: SiteQuality
SIO_000300: 8.33e-1

DP
type: SiteQuality
SIO_000300: 5.534264e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

QD
type: SiteQuality
SIO_000300: 1.572e1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
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GenotypeQuality
all individuals: 157
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51429
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 1050
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50665943470138e-5
allele num: 66372
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15426
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.014e1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.612e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 5.532764e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

FS
type: SiteQuality
SIO_000300: 4.196e0

GenotypeQuality
all individuals: 191
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 7.75e1
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GenotypeQuality
all individuals: 360
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variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15352
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507068149621726e-5
allele num: 66354
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 2.327e1

VQSLOD
type: SiteQuality
SIO_000300: -2.23e0

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 3.792e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 5.532166e6

GenotypeQuality
all individuals: 750
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 7.5e0
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GenotypeQuality
all individuals: 266
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variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
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GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 358
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variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51427
bin: 9.75e1
variant carriers: 3

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15320
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.522567612385805e-5
allele num: 66334
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.295e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

DP
type: SiteQuality
SIO_000300: 5.531812e6

MQ
type: SiteQuality
SIO_000300: 5.772e1

QD
type: SiteQuality
SIO_000300: 1.029e1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
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variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
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variant carriers: 0

GenotypeQuality
all individuals: 1063
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variant carriers: 0

GenotypeQuality
all individuals: 266
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variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51427
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15320
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66334
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 5.531812e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.295e0

QD
type: SiteQuality
SIO_000300: 1.029e1

MQ
type: SiteQuality
SIO_000300: 5.772e1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: -1.85e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

GenotypeQuality
all individuals: 506
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52875
bin: 9.75e1
variant carriers: 46

GenotypeQuality
all individuals: 285
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 38
allele frequency: 3.653846153846154e-3
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.182242183451373e-4
allele num: 11578
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

DP
type: SiteQuality
SIO_000300: 5.438989e6

FS
type: SiteQuality
SIO_000300: 3.923e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.872e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

GenotypeQuality
all individuals: 552
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
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variant carriers: 0

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

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 465
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GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 115
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GenotypeQuality
all individuals: 459
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variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52870
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 754
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.436e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.186e0

QD
type: SiteQuality
SIO_000300: 1.177e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.57e0

DP
type: SiteQuality
SIO_000300: 5.435524e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
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GenotypeQuality
all individuals: 141
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GenotypeQuality
all individuals: 424
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GenotypeQuality
all individuals: 135
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GenotypeQuality
all individuals: 324
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GenotypeQuality
all individuals: 52870
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variant carriers: 1

GenotypeQuality
all individuals: 551
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GenotypeQuality
all individuals: 755
bin: 7.75e1
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GenotypeQuality
all individuals: 1180
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 9.124000000000001e0

DP
type: SiteQuality
SIO_000300: 5.435753e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.42e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.619999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

QD
type: SiteQuality
SIO_000300: 1.416e1

GenotypeQuality
all individuals: 1194
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2509
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
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GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
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variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
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GenotypeQuality
all individuals: 106
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GenotypeQuality
all individuals: 189
bin: 3.25e1
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GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
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GenotypeQuality
all individuals: 52872
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 687
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.236e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 5.43901e6

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: -3.042e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.702e0

FS
type: SiteQuality
SIO_000300: 5.52e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

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

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.25e1
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GenotypeQuality
all individuals: 52874
bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.49985000299994e-5
allele num: 66668
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 5.441215e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.845e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.21e1

FS
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -1.73e-1

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

GenotypeQuality
all individuals: 2
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 20

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.444987775061124e-4
allele num: 16360
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.099832013438925e-4
allele num: 66672
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.02e0

QD
type: SiteQuality
SIO_000300: 1.423e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 5.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

DP
type: SiteQuality
SIO_000300: 5.441682e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

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

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3000
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variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.664e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 4.767e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.786e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

DP
type: SiteQuality
SIO_000300: 5.442911e6

QD
type: SiteQuality
SIO_000300: 2.31e0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 90
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 5.44481e6

QD
type: SiteQuality
SIO_000300: 1.193e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 337
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 819
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 470
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 730
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GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99868058054456e-5
allele num: 66696
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.44e-1

DP
type: SiteQuality
SIO_000300: 5.447764e6

FS
type: SiteQuality
SIO_000300: 1.794e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.724e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

QD
type: SiteQuality
SIO_000300: 1.047e1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

GenotypeQuality
all individuals: 470
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 820
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

MQRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.003e1

FS
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.599e0

DP
type: SiteQuality
SIO_000300: 5.448032e6

VQSLOD
type: SiteQuality
SIO_000300: 8.59e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.766e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 337
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.21e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.043e1

MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.3e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 1.742e0

VQSLOD
type: SiteQuality
SIO_000300: 8.71e-1

DP
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SIO_000300: 5.448191e6

InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.131e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
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SIO_000300: 7.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.78e-1

FS
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InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.359e1

DP
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SIO_000300: 5.44816e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 7.32e-1

InbreedingCoeff
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.359e1

DP
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: -2.205e0

QD
type: SiteQuality
SIO_000300: 1.048e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

DP
type: SiteQuality
SIO_000300: 5.447545e6

FS
type: SiteQuality
SIO_000300: 1.9471e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
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variant carriers: 265

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

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

Latino
type: Population
allele count: 9
allele frequency: 7.77336327517706e-4
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.728181468665898e-4
allele num: 10404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 243
allele frequency: 3.641431397230714e-3
allele num: 66732
num of homozygotes: 1

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 1.789e0

DP
type: SiteQuality
SIO_000300: 5.464337e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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FS
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DP
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele num: 908
num of homozygotes: 0

Latino
type: Population
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African
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

South Asian
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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ClippingRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.163e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.78e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.397e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

DP
type: SiteQuality
SIO_000300: 5.420973e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10404
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Latino
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

DP
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.835e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

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

South Asian
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allele frequency: 2.42306760358614e-4
allele num: 16508
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.044e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.766e0

FS
type: SiteQuality
SIO_000300: 1.992e0

DP
type: SiteQuality
SIO_000300: 5.420039e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.09e-1

MQRankSum
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SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 5.418779e6

VQSLOD
type: SiteQuality
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FS
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SIO_000300: 3.653e0

MQRankSum
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QD
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MQ
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -4.33e-1

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4