16-53725957-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53725957
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53725957
    reference: chr 16
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.529+21A>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.529+21A>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.529+21A>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.529+21A>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.529+21A>T
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40792
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

16-53725961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53725961
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53725961
    reference: chr 16
allele count: 5
allele frequency: 4.119226903494752e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.529+17G>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.529+17G>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.529+17G>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.529+17G>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.529+17G>A
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5221
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

16-53725962-G-GTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53725962
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53725965
    reference: chr 16
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: GTTC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.529+15_529+16insGAA
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.529+15_529+16insGAA
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.529+15_529+16insGAA
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.529+15_529+16insGAA
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.529+15_529+16insGAA
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40790
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-53725963-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53725963
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53725963
    reference: chr 16
allele count: 4
allele frequency: 3.295381522795802e-5
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.529+15A>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.529+15A>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.529+15A>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.529+15A>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.529+15A>G
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

16-53725965-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53725965
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53725965
    reference: chr 16
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.529+13T>C
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.529+13T>C
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.529+13T>C
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.529+13T>C
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.529+13T>C
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40789
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/16-53726001-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726001
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726001
    reference: chr 16
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.506G>T
  hgvsp: ENSP00000455295.1:p.Gly169Val
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.506G>T
  hgvsp: ENSP00000457889.1:p.Gly169Val
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.506G>T
  hgvsp: ENSP00000262135.4:p.Gly169Val
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.506G>T
  hgvsp: ENSP00000456534.1:p.Gly169Val
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.506G>T
  hgvsp: ENSP00000369257.3:p.Gly169Val
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly169Val
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP

16-53726001-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726001
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726001
    reference: chr 16
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.506G>A
  hgvsp: ENSP00000455295.1:p.Gly169Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.506G>A
  hgvsp: ENSP00000456534.1:p.Gly169Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.506G>A
  hgvsp: ENSP00000262135.4:p.Gly169Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.506G>A
  hgvsp: ENSP00000457889.1:p.Gly169Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.506G>A
  hgvsp: ENSP00000369257.3:p.Gly169Asp
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly169Asp
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

16-53726005-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726005
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726005
    reference: chr 16
allele count: 22
allele frequency: 1.81216124940281e-4
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.502G>A
  hgvsp: ENSP00000369257.3:p.Ala168Thr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.502G>A
  hgvsp: ENSP00000456534.1:p.Ala168Thr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.502G>A
  hgvsp: ENSP00000457889.1:p.Ala168Thr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.502G>A
  hgvsp: ENSP00000455295.1:p.Ala168Thr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.502G>A
  hgvsp: ENSP00000262135.4:p.Ala168Thr
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40791
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala168Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-53726025-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726025
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726025
    reference: chr 16
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.482G>T
  hgvsp: ENSP00000455295.1:p.Arg161Leu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.482G>T
  hgvsp: ENSP00000369257.3:p.Arg161Leu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.482G>T
  hgvsp: ENSP00000456534.1:p.Arg161Leu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.482G>T
  hgvsp: ENSP00000457889.1:p.Arg161Leu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.482G>T
  hgvsp: ENSP00000262135.4:p.Arg161Leu
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg161Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

16-53726025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726025
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726025
    reference: chr 16
allele count: 41
allele frequency: 3.377209601159783e-4
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.482G>A
  hgvsp: ENSP00000455295.1:p.Arg161His
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.482G>A
  hgvsp: ENSP00000262135.4:p.Arg161His
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.482G>A
  hgvsp: ENSP00000457889.1:p.Arg161His
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.482G>A
  hgvsp: ENSP00000456534.1:p.Arg161His
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.482G>A
  hgvsp: ENSP00000369257.3:p.Arg161His
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 9.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7436
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  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: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg161His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-53726026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726026
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726026
    reference: chr 16
allele count: 12
allele frequency: 9.884515905833511e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.481C>T
  hgvsp: ENSP00000455295.1:p.Arg161Cys
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.481C>T
  hgvsp: ENSP00000262135.4:p.Arg161Cys
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.481C>T
  hgvsp: ENSP00000457889.1:p.Arg161Cys
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.481C>T
  hgvsp: ENSP00000369257.3:p.Arg161Cys
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.481C>T
  hgvsp: ENSP00000456534.1:p.Arg161Cys
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 7793
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 5236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 40765
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg161Cys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

16-53726040-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726040
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726040
    reference: chr 16
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.467G>A
  hgvsp: ENSP00000369257.3:p.Arg156His
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.467G>A
  hgvsp: ENSP00000262135.4:p.Arg156His
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.467G>A
  hgvsp: ENSP00000455295.1:p.Arg156His
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.467G>A
  hgvsp: ENSP00000457889.1:p.Arg156His
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.467G>A
  hgvsp: ENSP00000456534.1:p.Arg156His
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7174
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg156His
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff

16-53726041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726041
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726041
    reference: chr 16
allele count: 22
allele frequency: 1.812131396000132e-4
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.466C>T
  hgvsp: ENSP00000455295.1:p.Arg156Cys
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.466C>T
  hgvsp: ENSP00000457889.1:p.Arg156Cys
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.466C>T
  hgvsp: ENSP00000369257.3:p.Arg156Cys
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.466C>T
  hgvsp: ENSP00000262135.4:p.Arg156Cys
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.466C>T
  hgvsp: ENSP00000456534.1:p.Arg156Cys
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40762
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg156Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

16-53726047-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726047
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726047
    reference: chr 16
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.460C>G
  hgvsp: ENSP00000369257.3:p.Gln154Glu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.460C>G
  hgvsp: ENSP00000457889.1:p.Gln154Glu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.460C>G
  hgvsp: ENSP00000456534.1:p.Gln154Glu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.460C>G
  hgvsp: ENSP00000455295.1:p.Gln154Glu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.460C>G
  hgvsp: ENSP00000262135.4:p.Gln154Glu
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40754
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5237
  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: 5.75e1
  variant carriers: 0
hgvs: p.Gln154Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

16-53726057-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726057
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726057
    reference: chr 16
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.450C>T
  hgvsp: ENST00000262135.4:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.450C>T
  hgvsp: ENST00000564374.1:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.450C>T
  hgvsp: ENST00000562230.1:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.450C>T
  hgvsp: ENST00000563746.1:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.450C>T
  hgvsp: ENST00000379925.3:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  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: 7.5e0
  variant carriers: 0
hgvs: p.Tyr150Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

16-53726058-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726058
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726058
    reference: chr 16
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.449A>G
  hgvsp: ENSP00000455295.1:p.Tyr150Cys
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.449A>G
  hgvsp: ENSP00000457889.1:p.Tyr150Cys
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.449A>G
  hgvsp: ENSP00000262135.4:p.Tyr150Cys
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.449A>G
  hgvsp: ENSP00000456534.1:p.Tyr150Cys
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.449A>G
  hgvsp: ENSP00000369257.3:p.Tyr150Cys
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5240
  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: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40754
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr150Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-53726059-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726059
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726059
    reference: chr 16
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.448T>C
  hgvsp: ENSP00000457889.1:p.Tyr150His
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.448T>C
  hgvsp: ENSP00000262135.4:p.Tyr150His
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.448T>C
  hgvsp: ENSP00000369257.3:p.Tyr150His
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.448T>C
  hgvsp: ENSP00000455295.1:p.Tyr150His
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.448T>C
  hgvsp: ENSP00000456534.1:p.Tyr150His
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr150His
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

16-53726063-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726063
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726063
    reference: chr 16
allele count: 17
allele frequency: 1.40026028367626e-4
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.444T>C
  hgvsp: ENST00000564374.1:c.444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.444T>C
  hgvsp: ENST00000379925.3:c.444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.444T>C
  hgvsp: ENST00000262135.4:c.444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.444T>C
  hgvsp: ENST00000563746.1:c.444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.444T>C
  hgvsp: ENST00000562230.1:c.444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr148Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

16-53726081-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726081
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726081
    reference: chr 16
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.426C>T
  hgvsp: ENST00000563746.1:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.426C>T
  hgvsp: ENST00000562230.1:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.426C>T
  hgvsp: ENST00000564374.1:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.426C>T
  hgvsp: ENST00000379925.3:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.426C>T
  hgvsp: ENST00000262135.4:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40747
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5245
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr142Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

16-53726088-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726088
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726088
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.419T>C
  hgvsp: ENSP00000455295.1:p.Leu140Pro
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.419T>C
  hgvsp: ENSP00000456534.1:p.Leu140Pro
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.419T>C
  hgvsp: ENSP00000369257.3:p.Leu140Pro
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.419T>C
  hgvsp: ENSP00000262135.4:p.Leu140Pro
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.419T>C
  hgvsp: ENSP00000457889.1:p.Leu140Pro
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5246
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40747
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu140Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

16-53726114-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726114
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726114
    reference: chr 16
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.393C>T
  hgvsp: ENST00000563746.1:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.393C>T
  hgvsp: ENST00000562230.1:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.393C>T
  hgvsp: ENST00000262135.4:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.393C>T
  hgvsp: ENST00000564374.1:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.393C>T
  hgvsp: ENST00000379925.3:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  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: 1.75e1
  variant carriers: 0
hgvs: p.Asn131Asn
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

16-53726118-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726118
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726118
    reference: chr 16
allele count: 7
allele frequency: 5.765492702533522e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.389A>G
  hgvsp: ENSP00000369257.3:p.Lys130Arg
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.389A>G
  hgvsp: ENSP00000457889.1:p.Lys130Arg
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.389A>G
  hgvsp: ENSP00000262135.4:p.Lys130Arg
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.389A>G
  hgvsp: ENSP00000455295.1:p.Lys130Arg
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.389A>G
  hgvsp: ENSP00000456534.1:p.Lys130Arg
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40744
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5250
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys130Arg
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

16-53726120-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726120
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726120
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.387C>T
  hgvsp: ENST00000564374.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.387C>T
  hgvsp: ENST00000379925.3:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.387C>T
  hgvsp: ENST00000562230.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.387C>T
  hgvsp: ENST00000262135.4:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.387C>T
  hgvsp: ENST00000563746.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu129Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum

16-53726124-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726124
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726124
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.383C>A
  hgvsp: ENSP00000262135.4:p.Thr128Asn
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.383C>A
  hgvsp: ENSP00000457889.1:p.Thr128Asn
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.383C>A
  hgvsp: ENSP00000455295.1:p.Thr128Asn
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.383C>A
  hgvsp: ENSP00000456534.1:p.Thr128Asn
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.383C>A
  hgvsp: ENSP00000369257.3:p.Thr128Asn
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40743
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr128Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

16-53726139-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726139
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726139
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.368A>G
  hgvsp: ENSP00000455295.1:p.Glu123Gly
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.368A>G
  hgvsp: ENST00000562588.1:c.368A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.368A>G
  hgvsp: ENSP00000456534.1:p.Glu123Gly
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.368A>G
  hgvsp: ENSP00000369257.3:p.Glu123Gly
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.368A>G
  hgvsp: ENSP00000262135.4:p.Glu123Gly
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.368A>G
  hgvsp: ENSP00000457889.1:p.Glu123Gly
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  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
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40741
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu123Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

16-53726166-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726166
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726166
    reference: chr 16
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.341A>G
  hgvsp: ENSP00000456534.1:p.Gln114Arg
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.341A>G
  hgvsp: ENSP00000369257.3:p.Gln114Arg
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.341A>G
  hgvsp: ENSP00000262135.4:p.Gln114Arg
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.341A>G
  hgvsp: ENSP00000457889.1:p.Gln114Arg
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.341A>G
  hgvsp: ENSP00000455295.1:p.Gln114Arg
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.341A>G
  hgvsp: ENSP00000459817.1:p.Gln114Arg
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  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
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln114Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

16-53726172-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726172
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726172
    reference: chr 16
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.335T>C
  hgvsp: ENSP00000457889.1:p.Ile112Thr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.335T>C
  hgvsp: ENSP00000369257.3:p.Ile112Thr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.335T>C
  hgvsp: ENSP00000262135.4:p.Ile112Thr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.335T>C
  hgvsp: ENSP00000455295.1:p.Ile112Thr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.335T>C
  hgvsp: ENSP00000459817.1:p.Ile112Thr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.335T>C
  hgvsp: ENSP00000456534.1:p.Ile112Thr
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile112Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

16-53726183-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726183
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726183
    reference: chr 16
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.324G>C
  hgvsp: ENSP00000455295.1:p.Met108Ile
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.324G>C
  hgvsp: ENSP00000457889.1:p.Met108Ile
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.324G>C
  hgvsp: ENSP00000262135.4:p.Met108Ile
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.324G>C
  hgvsp: ENSP00000459817.1:p.Met108Ile
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.324G>C
  hgvsp: ENSP00000369257.3:p.Met108Ile
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.324G>C
  hgvsp: ENSP00000456534.1:p.Met108Ile
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40738
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5236
  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: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met108Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

16-53726194-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726194
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726194
    reference: chr 16
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.313G>A
  hgvsp: ENSP00000459817.1:p.Asp105Asn
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.313G>A
  hgvsp: ENSP00000262135.4:p.Asp105Asn
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.313G>A
  hgvsp: ENSP00000455295.1:p.Asp105Asn
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.313G>A
  hgvsp: ENSP00000369257.3:p.Asp105Asn
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.313G>A
  hgvsp: ENSP00000457889.1:p.Asp105Asn
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.313G>A
  hgvsp: ENSP00000456534.1:p.Asp105Asn
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp105Asn
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

16-53726195-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726195
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726195
    reference: chr 16
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.312A>C
  hgvsp: ENST00000564374.1:c.312A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.312A>C
  hgvsp: ENST00000562230.1:c.312A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.312A>C
  hgvsp: ENST00000562588.1:c.312A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.312A>C
  hgvsp: ENST00000262135.4:c.312A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.312A>C
  hgvsp: ENST00000563746.1:c.312A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.312A>C
  hgvsp: ENST00000379925.3:c.312A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40738
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg104Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

16-53726197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726197
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726197
    reference: chr 16
allele count: 3
allele frequency: 2.471861971227527e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.310C>T
  hgvsp: ENSP00000457889.1:p.Arg104Ter
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.310C>T
  hgvsp: ENSP00000369257.3:p.Arg104Ter
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.310C>T
  hgvsp: ENSP00000262135.4:p.Arg104Ter
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.310C>T
  hgvsp: ENSP00000459817.1:p.Arg104Ter
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.310C>T
  hgvsp: ENSP00000455295.1:p.Arg104Ter
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.310C>T
  hgvsp: ENSP00000456534.1:p.Arg104Ter
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40736
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg104Ter
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/16-53726200-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726200
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726200
    reference: chr 16
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.307G>T
  hgvsp: ENSP00000455295.1:p.Gly103Ter
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.307G>T
  hgvsp: ENSP00000369257.3:p.Gly103Ter
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.307G>T
  hgvsp: ENSP00000457889.1:p.Gly103Ter
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.307G>T
  hgvsp: ENSP00000456534.1:p.Gly103Ter
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.307G>T
  hgvsp: ENSP00000459817.1:p.Gly103Ter
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.307G>T
  hgvsp: ENSP00000262135.4:p.Gly103Ter
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly103Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

16-53726204-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726204
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726204
    reference: chr 16
allele count: 10
allele frequency: 8.241984669908514e-5
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.303G>A
  hgvsp: ENST00000562230.1:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.303G>A
  hgvsp: ENST00000379925.3:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.303G>A
  hgvsp: ENST00000562588.1:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.303G>A
  hgvsp: ENST00000563746.1:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.303G>A
  hgvsp: ENST00000564374.1:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.303G>A
  hgvsp: ENST00000262135.4:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg101Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

16-53726205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726205
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726205
    reference: chr 16
allele count: 5
allele frequency: 4.1209244057627e-5
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.302G>A
  hgvsp: ENSP00000456534.1:p.Arg101Gln
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.302G>A
  hgvsp: ENSP00000369257.3:p.Arg101Gln
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.302G>A
  hgvsp: ENSP00000457889.1:p.Arg101Gln
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.302G>A
  hgvsp: ENSP00000459817.1:p.Arg101Gln
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.302G>A
  hgvsp: ENSP00000455295.1:p.Arg101Gln
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.302G>A
  hgvsp: ENSP00000262135.4:p.Arg101Gln
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg101Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

16-53726208-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726208
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726208
    reference: chr 16
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.299A>G
  hgvsp: ENSP00000369257.3:p.Lys100Arg
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.299A>G
  hgvsp: ENSP00000262135.4:p.Lys100Arg
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.299A>G
  hgvsp: ENSP00000455295.1:p.Lys100Arg
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.299A>G
  hgvsp: ENSP00000457889.1:p.Lys100Arg
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.299A>G
  hgvsp: ENSP00000456534.1:p.Lys100Arg
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.299A>G
  hgvsp: ENSP00000459817.1:p.Lys100Arg
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys100Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

16-53726210-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726210
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726210
    reference: chr 16
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.297C>T
  hgvsp: ENST00000562230.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.297C>T
  hgvsp: ENST00000262135.4:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.297C>T
  hgvsp: ENST00000563746.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.297C>T
  hgvsp: ENST00000562588.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.297C>T
  hgvsp: ENST00000379925.3:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.297C>T
  hgvsp: ENST00000564374.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3314
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro99Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

16-53726213-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726213
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726213
    reference: chr 16
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.294C>A
  hgvsp: ENST00000563746.1:c.294C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.294C>A
  hgvsp: ENST00000562588.1:c.294C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.294C>A
  hgvsp: ENST00000564374.1:c.294C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.294C>A
  hgvsp: ENST00000262135.4:c.294C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.294C>A
  hgvsp: ENST00000562230.1:c.294C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.294C>A
  hgvsp: ENST00000379925.3:c.294C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly98Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-53726215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726215
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726215
    reference: chr 16
allele count: 15
allele frequency: 1.236929775373553e-4
allele num: 121268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.292G>A
  hgvsp: ENSP00000456534.1:p.Gly98Ser
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.292G>A
  hgvsp: ENSP00000459817.1:p.Gly98Ser
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.292G>A
  hgvsp: ENSP00000369257.3:p.Gly98Ser
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.292G>A
  hgvsp: ENSP00000262135.4:p.Gly98Ser
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.292G>A
  hgvsp: ENSP00000455295.1:p.Gly98Ser
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.292G>A
  hgvsp: ENSP00000457889.1:p.Gly98Ser
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly98Ser
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

16-53726216-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726216
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726216
    reference: chr 16
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.291C>T
  hgvsp: ENST00000562230.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.291C>T
  hgvsp: ENST00000564374.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.291C>T
  hgvsp: ENST00000563746.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.291C>T
  hgvsp: ENST00000379925.3:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.291C>T
  hgvsp: ENST00000562588.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.291C>T
  hgvsp: ENST00000262135.4:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40714
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3314
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly97Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

16-53726220-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726220
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726220
    reference: chr 16
allele count: 3
allele frequency: 2.47520667975776e-5
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.287G>A
  hgvsp: ENSP00000459817.1:p.Gly96Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.287G>A
  hgvsp: ENSP00000369257.3:p.Gly96Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.287G>A
  hgvsp: ENSP00000455295.1:p.Gly96Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.287G>A
  hgvsp: ENSP00000262135.4:p.Gly96Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.287G>A
  hgvsp: ENSP00000456534.1:p.Gly96Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.287G>A
  hgvsp: ENSP00000457889.1:p.Gly96Asp
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3314
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly96Asp
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

16-53726226-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726226
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726226
    reference: chr 16
allele count: 3
allele frequency: 2.476064707824365e-5
allele num: 121160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.281G>A
  hgvsp: ENSP00000459817.1:p.Arg94Gln
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.281G>A
  hgvsp: ENSP00000262135.4:p.Arg94Gln
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.281G>A
  hgvsp: ENSP00000457889.1:p.Arg94Gln
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.281G>A
  hgvsp: ENSP00000455295.1:p.Arg94Gln
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.281G>A
  hgvsp: ENSP00000456534.1:p.Arg94Gln
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.281G>A
  hgvsp: ENSP00000369257.3:p.Arg94Gln
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg94Gln
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

16-53726226-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726226
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726226
    reference: chr 16
allele count: 4
allele frequency: 3.301419610432486e-5
allele num: 121160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.281G>C
  hgvsp: ENSP00000262135.4:p.Arg94Pro
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.281G>C
  hgvsp: ENSP00000457889.1:p.Arg94Pro
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.281G>C
  hgvsp: ENSP00000455295.1:p.Arg94Pro
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.281G>C
  hgvsp: ENSP00000459817.1:p.Arg94Pro
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.281G>C
  hgvsp: ENSP00000456534.1:p.Arg94Pro
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.281G>C
  hgvsp: ENSP00000369257.3:p.Arg94Pro
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40713
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg94Pro
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

16-53726227-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726227
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726227
    reference: chr 16
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.280C>T
  hgvsp: ENSP00000262135.4:p.Arg94Trp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.280C>T
  hgvsp: ENSP00000457889.1:p.Arg94Trp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.280C>T
  hgvsp: ENSP00000456534.1:p.Arg94Trp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.280C>T
  hgvsp: ENSP00000369257.3:p.Arg94Trp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.280C>T
  hgvsp: ENSP00000455295.1:p.Arg94Trp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.280C>T
  hgvsp: ENSP00000459817.1:p.Arg94Trp
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5066
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg94Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

16-53726228-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726228
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726228
    reference: chr 16
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.279G>C
  hgvsp: ENSP00000369257.3:p.Glu93Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.279G>C
  hgvsp: ENSP00000457889.1:p.Glu93Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.279G>C
  hgvsp: ENSP00000455295.1:p.Glu93Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.279G>C
  hgvsp: ENSP00000456534.1:p.Glu93Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.279G>C
  hgvsp: ENSP00000262135.4:p.Glu93Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.279G>C
  hgvsp: ENSP00000459817.1:p.Glu93Asp
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40705
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu93Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

16-53726229-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726229
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726229
    reference: chr 16
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.278A>T
  hgvsp: ENSP00000262135.4:p.Glu93Val
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.278A>T
  hgvsp: ENSP00000459817.1:p.Glu93Val
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.278A>T
  hgvsp: ENSP00000369257.3:p.Glu93Val
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.278A>T
  hgvsp: ENSP00000456534.1:p.Glu93Val
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.278A>T
  hgvsp: ENSP00000457889.1:p.Glu93Val
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.278A>T
  hgvsp: ENSP00000455295.1:p.Glu93Val
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5054
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu93Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

16-53726231-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726231
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726231
    reference: chr 16
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.276T>A
  hgvsp: ENSP00000262135.4:p.Tyr92Ter
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.276T>A
  hgvsp: ENSP00000455295.1:p.Tyr92Ter
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.276T>A
  hgvsp: ENSP00000459817.1:p.Tyr92Ter
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.276T>A
  hgvsp: ENSP00000456534.1:p.Tyr92Ter
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.276T>A
  hgvsp: ENSP00000457889.1:p.Tyr92Ter
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.276T>A
  hgvsp: ENSP00000369257.3:p.Tyr92Ter
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40705
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr92Ter
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

16-53726239-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726239
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726239
    reference: chr 16
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.268A>G
  hgvsp: ENSP00000459817.1:p.Lys90Glu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.268A>G
  hgvsp: ENSP00000456534.1:p.Lys90Glu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.268A>G
  hgvsp: ENSP00000262135.4:p.Lys90Glu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.268A>G
  hgvsp: ENSP00000457889.1:p.Lys90Glu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.268A>G
  hgvsp: ENSP00000455295.1:p.Lys90Glu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.268A>G
  hgvsp: ENSP00000369257.3:p.Lys90Glu
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys90Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/16-53726245-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726245
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726245
    reference: chr 16
allele count: 2
allele frequency: 1.653657891255457e-5
allele num: 120944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.262G>T
  hgvsp: ENSP00000455295.1:p.Asp88Tyr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.262G>T
  hgvsp: ENSP00000457889.1:p.Asp88Tyr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.262G>T
  hgvsp: ENSP00000459817.1:p.Asp88Tyr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.262G>T
  hgvsp: ENSP00000369257.3:p.Asp88Tyr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.262G>T
  hgvsp: ENSP00000262135.4:p.Asp88Tyr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.262G>T
  hgvsp: ENSP00000456534.1:p.Asp88Tyr
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp88Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

16-53726246-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726246
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726246
    reference: chr 16
allele count: 1
allele frequency: 8.267332462507647e-6
allele num: 120958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.261T>A
  hgvsp: ENSP00000457889.1:p.Asn87Lys
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.261T>A
  hgvsp: ENSP00000369257.3:p.Asn87Lys
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.261T>A
  hgvsp: ENSP00000262135.4:p.Asn87Lys
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.261T>A
  hgvsp: ENSP00000456534.1:p.Asn87Lys
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.261T>A
  hgvsp: ENSP00000455295.1:p.Asn87Lys
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.261T>A
  hgvsp: ENSP00000459817.1:p.Asn87Lys
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40673
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn87Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

16-53726247-TTAAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726247
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726243
    reference: chr 16
allele count: 1
allele frequency: 8.271161767381846e-6
allele num: 120902
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.256_259delGTTA
  hgvsp: ENSP00000369257.3:p.Val86MetfsTer25
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.256_259delGTTA
  hgvsp: ENSP00000262135.4:p.Val86MetfsTer25
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.256_259delGTTA
  hgvsp: ENSP00000459817.1:p.Val86MetfsTer25
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.256_259delGTTA
  hgvsp: ENSP00000457889.1:p.Val86MetfsTer25
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.256_259delGTTA
  hgvsp: ENSP00000456534.1:p.Val86MetfsTer25
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.256_259delGTTA
  hgvsp: ENSP00000455295.1:p.Val86MetfsTer25
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4850
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val86MetfsTer25
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: TTAAC
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

16-53726250-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726250
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726250
    reference: chr 16
allele count: 88
allele frequency: 7.333577785926198e-4
allele num: 119996
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.257T>A
  hgvsp: ENSP00000369257.3:p.Val86Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.257T>A
  hgvsp: ENSP00000459817.1:p.Val86Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.257T>A
  hgvsp: ENSP00000262135.4:p.Val86Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.257T>A
  hgvsp: ENSP00000457889.1:p.Val86Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.257T>A
  hgvsp: ENSP00000456534.1:p.Val86Asp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.257T>A
  hgvsp: ENSP00000455295.1:p.Val86Asp
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40182
  bin: 9.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.5e0
  variant carriers: 1
hgvs: p.Val86Asp
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-53726250-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726250
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726250
    reference: chr 16
allele count: 61
allele frequency: 5.083502783426114e-4
allele num: 119996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.257T>G
  hgvsp: ENSP00000457889.1:p.Val86Gly
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.257T>G
  hgvsp: ENSP00000262135.4:p.Val86Gly
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.257T>G
  hgvsp: ENSP00000369257.3:p.Val86Gly
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.257T>G
  hgvsp: ENSP00000456534.1:p.Val86Gly
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.257T>G
  hgvsp: ENSP00000455295.1:p.Val86Gly
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.257T>G
  hgvsp: ENSP00000459817.1:p.Val86Gly
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4786
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Val86Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

16-53726251-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726251
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726251
    reference: chr 16
allele count: 1
allele frequency: 8.579861349440594e-6
allele num: 116552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.256G>C
  hgvsp: ENSP00000455295.1:p.Val86Leu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.256G>C
  hgvsp: ENSP00000369257.3:p.Val86Leu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.256G>C
  hgvsp: ENSP00000459817.1:p.Val86Leu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.256G>C
  hgvsp: ENSP00000456534.1:p.Val86Leu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.256G>C
  hgvsp: ENSP00000457889.1:p.Val86Leu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.256G>C
  hgvsp: ENSP00000262135.4:p.Val86Leu
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38701
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val86Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

16-53726251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726251
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726251
    reference: chr 16
allele count: 1090
allele frequency: 9.352048870890247e-3
allele num: 116552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.256G>A
  hgvsp: ENSP00000262135.4:p.Val86Ile
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.256G>A
  hgvsp: ENSP00000457889.1:p.Val86Ile
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.256G>A
  hgvsp: ENSP00000456534.1:p.Val86Ile
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.256G>A
  hgvsp: ENSP00000455295.1:p.Val86Ile
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.256G>A
  hgvsp: ENSP00000459817.1:p.Val86Ile
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.256G>A
  hgvsp: ENSP00000369257.3:p.Val86Ile
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 6.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 5.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 9.75e1
  variant carriers: 539
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7783
  bin: 4.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 6.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 7.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 8.75e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 5.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 8.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 7.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 2.5e0
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 3164
  bin: 9.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 7.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 8.25e1
  variant carriers: 26
hgvs: p.Val86Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

16-53726252-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726252
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726252
    reference: chr 16
allele count: 2
allele frequency: 1.655958137378287e-5
allele num: 120776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.255A>G
  hgvsp: ENST00000562230.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.255A>G
  hgvsp: ENST00000563746.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.255A>G
  hgvsp: ENST00000562588.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.255A>G
  hgvsp: ENST00000379925.3:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.255A>G
  hgvsp: ENST00000262135.4:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.255A>G
  hgvsp: ENST00000564374.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40805
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu85Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

16-53726256-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726256
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726256
    reference: chr 16
allele count: 18
allele frequency: 1.489129355703365e-4
allele num: 120876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.251G>A
  hgvsp: ENSP00000459817.1:p.Arg84Gln
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.251G>A
  hgvsp: ENSP00000455295.1:p.Arg84Gln
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.251G>A
  hgvsp: ENSP00000369257.3:p.Arg84Gln
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.251G>A
  hgvsp: ENSP00000456534.1:p.Arg84Gln
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.251G>A
  hgvsp: ENSP00000262135.4:p.Arg84Gln
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.251G>A
  hgvsp: ENSP00000457889.1:p.Arg84Gln
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7032
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40865
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg84Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum

16-53726257-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726257
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726257
    reference: chr 16
allele count: 3
allele frequency: 2.482128673550437e-5
allele num: 120864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.250C>T
  hgvsp: ENSP00000455295.1:p.Arg84Trp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.250C>T
  hgvsp: ENSP00000459817.1:p.Arg84Trp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.250C>T
  hgvsp: ENSP00000262135.4:p.Arg84Trp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.250C>T
  hgvsp: ENSP00000457889.1:p.Arg84Trp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.250C>T
  hgvsp: ENSP00000456534.1:p.Arg84Trp
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.250C>T
  hgvsp: ENSP00000369257.3:p.Arg84Trp
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40861
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg84Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

16-53726267-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726267
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726267
    reference: chr 16
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.240C>G
  hgvsp: ENST00000562588.1:c.240C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.240C>G
  hgvsp: ENST00000564374.1:c.240C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.240C>G
  hgvsp: ENST00000262135.4:c.240C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.240C>G
  hgvsp: ENST00000562230.1:c.240C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.240C>G
  hgvsp: ENST00000379925.3:c.240C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.240C>G
  hgvsp: ENST00000563746.1:c.240C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr80Thr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum

16-53726272-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726272
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726272
    reference: chr 16
allele count: 2
allele frequency: 1.656204971927326e-5
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.235G>A
  hgvsp: ENSP00000457889.1:p.Ala79Thr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.235G>A
  hgvsp: ENSP00000456534.1:p.Ala79Thr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.235G>A
  hgvsp: ENSP00000459817.1:p.Ala79Thr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.235G>A
  hgvsp: ENSP00000369257.3:p.Ala79Thr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.235G>A
  hgvsp: ENSP00000455295.1:p.Ala79Thr
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.235G>A
  hgvsp: ENSP00000262135.4:p.Ala79Thr
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala79Thr
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/16-53726277-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726277
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726277
    reference: chr 16
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.231-1G>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.231-1G>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.231-1G>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.231-1G>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.231-1G>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.231-1G>T
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2774
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5055
  bin: 6.25e1
  variant carriers: 0
hgvs: c.231-1G>T
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

16-53726280-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726280
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726280
    reference: chr 16
allele count: 5
allele frequency: 4.142296157606084e-5
allele num: 120706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.231-4C>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.231-4C>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.231-4C>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.231-4C>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.231-4C>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.231-4C>A
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
hgvs: c.231-4C>A
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-53726291-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726291
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726291
    reference: chr 16
allele count: 1
allele frequency: 8.289399515899069e-6
allele num: 120636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.231-15T>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.231-15T>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.231-15T>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.231-15T>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.231-15T>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.231-15T>G
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40855
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

16-53726309-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726309
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726309
    reference: chr 16
allele count: 109
allele frequency: 9.04189133139776e-4
allele num: 120550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.231-33A>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.231-33A>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.231-33A>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.231-33A>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.231-33A>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.231-33A>G
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

16-53726310-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726310
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726310
    reference: chr 16
allele count: 1
allele frequency: 8.296138976920141e-6
allele num: 120538
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.231-34C>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.231-34C>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.231-34C>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.231-34C>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.231-34C>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.231-34C>A
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-53726315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726315
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726315
    reference: chr 16
allele count: 2
allele frequency: 1.659916340216453e-5
allele num: 120488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.231-39C>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.231-39C>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.231-39C>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.231-39C>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.231-39C>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.231-39C>T
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40814
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

16-53726320-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726320
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726320
    reference: chr 16
allele count: 1
allele frequency: 8.303854649328218e-6
allele num: 120426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.231-44G>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.231-44G>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.231-44G>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.231-44G>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.231-44G>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.231-44G>A
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

16-53726327-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53726327
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53726327
    reference: chr 16
allele count: 2
allele frequency: 1.66220641279234e-5
allele num: 120322
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.231-51A>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.231-51A>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.231-51A>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.231-51A>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.231-51A>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.231-51A>G
  variant of: http://identifiers.org/hgnc/29168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD

16-53729201-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53729201
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53729201
    reference: chr 16
allele count: 1
allele frequency: 9.160864785635764e-5
allele num: 10916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455451
  ensembl transcript: ENST00000568653
  gene symbol: RPGRIP1L
  hgvsc: ENST00000568653.3:c.*22T>C
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.230+862T>C
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.230+862T>C
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.230+862T>C
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.230+862T>C
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.230+862T>C
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.230+862T>C
  variant of: http://identifiers.org/hgnc/29168
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

16-53729243-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53729243
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53729243
    reference: chr 16
allele count: 2
allele frequency: 1.634788294915808e-4
allele num: 12234
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.230+820T>C
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455451
  ensembl transcript: ENST00000568653
  gene symbol: RPGRIP1L
  hgvsc: ENST00000568653.3:c.358T>C
  hgvsp: ENSP00000455451.3:p.Cys120Arg
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.230+820T>C
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.230+820T>C
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.230+820T>C
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.230+820T>C
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.230+820T>C
  variant of: http://identifiers.org/hgnc/29168
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys120Arg
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

16-53729261-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53729261
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53729261
    reference: chr 16
allele count: 1
allele frequency: 8.128759551292472e-5
allele num: 12302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.230+802C>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.230+802C>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.230+802C>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.230+802C>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455451
  ensembl transcript: ENST00000568653
  gene symbol: RPGRIP1L
  hgvsc: ENST00000568653.3:c.340C>G
  hgvsp: ENSP00000455451.3:p.Gln114Glu
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.230+802C>G
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.230+802C>G
  variant of: http://identifiers.org/hgnc/29168
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln114Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-53729283-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53729283
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53729283
    reference: chr 16
allele count: 6
allele frequency: 4.872502842293325e-4
allele num: 12314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.230+780G>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.230+780G>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.230+780G>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.230+780G>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.230+780G>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455451
  ensembl transcript: ENST00000568653
  gene symbol: RPGRIP1L
  hgvsc: ENST00000568653.3:c.318G>T
  hgvsp: ENSP00000455451.3:p.Gln106His
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.230+780G>T
  variant of: http://identifiers.org/hgnc/29168
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5265
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln106His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/16-53729329-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53729329
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53729329
    reference: chr 16
allele count: 1
allele frequency: 8.126117341134406e-5
allele num: 12306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.230+734G>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455451
  ensembl transcript: ENST00000568653
  gene symbol: RPGRIP1L
  hgvsc: ENST00000568653.3:c.272G>T
  hgvsp: ENSP00000455451.3:p.Arg91Met
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.230+734G>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.230+734G>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.230+734G>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.230+734G>T
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.230+734G>T
  variant of: http://identifiers.org/hgnc/29168
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg91Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-53729343-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53729343
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 53729343
    reference: chr 16
allele count: 1
allele frequency: 8.151287903488751e-5
allele num: 12268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455295
  ensembl transcript: ENST00000562230
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562230.1:c.230+720G>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000369257
  ensembl transcript: ENST00000379925
  gene symbol: RPGRIP1L
  hgvsc: ENST00000379925.3:c.230+720G>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000457889
  ensembl transcript: ENST00000563746
  gene symbol: RPGRIP1L
  hgvsc: ENST00000563746.1:c.230+720G>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000455451
  ensembl transcript: ENST00000568653
  gene symbol: RPGRIP1L
  hgvsc: ENST00000568653.3:c.258G>A
  hgvsp: ENST00000568653.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000262135
  ensembl transcript: ENST00000262135
  gene symbol: RPGRIP1L
  hgvsc: ENST00000262135.4:c.230+720G>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000456534
  ensembl transcript: ENST00000564374
  gene symbol: RPGRIP1L
  hgvsc: ENST00000564374.1:c.230+720G>A
  variant of: http://identifiers.org/hgnc/29168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103494
  ensembl protein: ENSP00000459817
  ensembl transcript: ENST00000562588
  gene symbol: RPGRIP1L
  hgvsc: ENST00000562588.1:c.230+720G>A
  variant of: http://identifiers.org/hgnc/29168
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu86Leu
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 1714
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2587
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3301
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
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: 10392
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.025e0

DP
type: SiteQuality
SIO_000300: 3.155615e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.538e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

MQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

GenotypeQuality
all individuals: 40793
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2837
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2587
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1714
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028467595396729e-4
allele num: 16510
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

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: 6612
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 3.155844e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

FS
type: SiteQuality
SIO_000300: 3.645e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.836e0

QD
type: SiteQuality
SIO_000300: 1.3e1

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

GenotypeQuality
all individuals: 2749
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5219
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3303
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
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: 10400
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.74e-1

DP
type: SiteQuality
SIO_000300: 3.155681e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.18e0

FS
type: SiteQuality
SIO_000300: 1.0856e1

QD
type: SiteQuality
SIO_000300: 1.435e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.04e-1

GenotypeQuality
all individuals: 2750
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40789
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2838
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.455425017277125e-4
allele num: 11576
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.171e0

DP
type: SiteQuality
SIO_000300: 3.15598e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 8.82e-1

QD
type: SiteQuality
SIO_000300: 1.494e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.15e0

FS
type: SiteQuality
SIO_000300: 3.219e0

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

GenotypeQuality
all individuals: 5222
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2837
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3303
bin: 9.25e1
variant carriers: 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: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 6612
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: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.96e-1

FS
type: SiteQuality
SIO_000300: 8.76e-1

DP
type: SiteQuality
SIO_000300: 3.155611e6

QD
type: SiteQuality
SIO_000300: 1.223e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e-1

MQ
type: SiteQuality
SIO_000300: 5.894e1

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

GenotypeQuality
all individuals: 40791
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2590
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1476
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: 16512
num of homozygotes: 0

Other
type: Population
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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.335e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.347e0

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

QD
type: SiteQuality
SIO_000300: 1.094e1

FS
type: SiteQuality
SIO_000300: 9.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.09e-1

DP
type: SiteQuality
SIO_000300: 3.156003e6

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2755
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40791
bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
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

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

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.094e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.347e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 9.95e-1

DP
type: SiteQuality
SIO_000300: 3.156003e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.335e0

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

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

GenotypeQuality
all individuals: 3304
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1713
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2756
bin: 6.75e1
variant carriers: 0

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

European (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: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 22
allele frequency: 1.900155467265504e-3
allele num: 11578
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.182e1

MQRankSum
type: SiteQuality
SIO_000300: -4.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 3.158308e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.748e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 6.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

GenotypeQuality
all individuals: 3307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40784
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1713
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 7.25e1
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: 10402
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: 2.996973057212216e-5
allele num: 66734
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: 16512
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 3.160887e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

FS
type: SiteQuality
SIO_000300: 1.818e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

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

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

GenotypeQuality
all individuals: 40784
bin: 9.75e1
variant carriers: 41

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

GenotypeQuality
all individuals: 3307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

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

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

African
type: Population
allele count: 37
allele frequency: 3.557008267640838e-3
allele num: 10402
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: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.291e1

FS
type: SiteQuality
SIO_000300: 1.818e0

DP
type: SiteQuality
SIO_000300: 3.160887e6

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2839
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 8
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East Asian
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European (Non-Finnish)
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allele frequency: 2.996973057212216e-5
allele num: 66734
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11578
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South Asian
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allele num: 16512
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Other
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DP
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QD
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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allele num: 10402
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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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South Asian
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Latino
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European (Finnish)
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African
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Other
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DP
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QD
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BaseQRankSum
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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South Asian
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQ
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ClippingRankSum
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DP
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BaseQRankSum
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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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East Asian
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Latino
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European (Non-Finnish)
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allele num: 66736
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European (Finnish)
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African
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South Asian
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Other
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FS
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BaseQRankSum
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ClippingRankSum
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QD
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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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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South Asian
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Latino
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allele frequency: 8.637070305752289e-5
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African
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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FS
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QD
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ClippingRankSum
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MQ
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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South Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
allele num: 66736
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Latino
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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South Asian
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Latino
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Other
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European (Non-Finnish)
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allele frequency: 2.547350755214577e-4
allele num: 66736
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
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BaseQRankSum
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VQSLOD
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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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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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East Asian
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Other
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South Asian
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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VQSLOD
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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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African
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Latino
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European (Non-Finnish)
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South Asian
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Other
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East Asian
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European (Finnish)
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QD
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BaseQRankSum
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MQ
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DP
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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MQ
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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East Asian
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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

European (Finnish)
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allele count: 5
allele frequency: 7.559721802237678e-4
allele num: 6614
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.18e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

DP
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SIO_000300: 3.154695e6

ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
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ClippingRankSum
type: SiteQuality
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QD
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 1

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

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
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QD
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MQ
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SIO_000300: 5.917e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -8.779999999999999e0

VQSLOD
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ClippingRankSum
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SIO_000300: 1.06e-1

DP
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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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

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: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Latino
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allele num: 11578
num of homozygotes: 0

East Asian
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Other
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num of homozygotes: 0

ReadPosRankSum
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MQRankSum
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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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FS
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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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

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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allele count: 0
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DP
type: SiteQuality
SIO_000300: 3.153533e6

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.449e0

InbreedingCoeff
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VQSLOD
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QD
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SIO_000300: 1.356e1

MQ
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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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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South Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQ
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QD
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BaseQRankSum
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ClippingRankSum
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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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East Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

Other
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European (Non-Finnish)
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African
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East Asian
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South Asian
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European (Finnish)
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Latino
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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DP
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QD
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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MQ
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QD
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DP
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Latino
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: 7.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.91e-1

QD
type: SiteQuality
SIO_000300: 1.369e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 3.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.569000000000001e0

DP
type: SiteQuality
SIO_000300: 3.151771e6

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

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

GenotypeQuality
all individuals: 83
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2746
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40729
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2838
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.155535012710885e-3
allele num: 8654
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
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 (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 3.153004e6

FS
type: SiteQuality
SIO_000300: 1.107e0

QD
type: SiteQuality
SIO_000300: 1.134e1

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.798e0

GenotypeQuality
all individuals: 84
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2838
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 40724
bin: 9.75e1
variant carriers: 5

African
type: Population
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993586862057598e-5
allele num: 66738
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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.267e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 3.151507e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

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

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

GenotypeQuality
all individuals: 2839
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40722
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2750
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
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

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

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: 10328
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.98e0

VQSLOD
type: SiteQuality
SIO_000300: -6.92e-2

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.393e1

FS
type: SiteQuality
SIO_000300: 8.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.221e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e0

DP
type: SiteQuality
SIO_000300: 3.150824e6

GenotypeQuality
all individuals: 5168
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2751
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2840
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40721
bin: 9.75e1
variant carriers: 1

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: 66738
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.104e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.603e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.055e0

FS
type: SiteQuality
SIO_000300: 4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.918e1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e0

DP
type: SiteQuality
SIO_000300: 3.150666e6

VQSLOD
type: SiteQuality
SIO_000300: -1.154e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e0

GenotypeQuality
all individuals: 99
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40720
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5146
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3314
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 7.25e1
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: 0
allele frequency: 0.0e0
allele num: 10294
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: 16512
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: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 3.150104e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.395e0

VQSLOD
type: SiteQuality
SIO_000300: -1.088e0

FS
type: SiteQuality
SIO_000300: 6.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 7.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.406e0

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

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40723
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 3314
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1716
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2837
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2592
bin: 7.75e1
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: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

DP
type: SiteQuality
SIO_000300: 3.151822e6

FS
type: SiteQuality
SIO_000300: 1.129e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2838
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5127
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 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

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: 10252
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: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.853999999999999e0

QD
type: SiteQuality
SIO_000300: 2.592e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.612e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.049e0

MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

DP
type: SiteQuality
SIO_000300: 3.149147e6

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2837
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 5083
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2730
bin: 6.75e1
variant carriers: 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: 16512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.803921568627451e-5
allele num: 10200
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: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.027e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: -8.44e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

FS
type: SiteQuality
SIO_000300: 1.189e0

QD
type: SiteQuality
SIO_000300: 2.26e1

DP
type: SiteQuality
SIO_000300: 3.147866e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

GenotypeQuality
all individuals: 1459
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2587
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2727
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3313
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40713
bin: 9.75e1
variant carriers: 3

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: 906
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 1.197e0

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.73e-1

DP
type: SiteQuality
SIO_000300: 3.148998e6

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 166
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2587
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1719
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2840
bin: 8.25e1
variant carriers: 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: 906
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: 10160
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 4
allele frequency: 3.454828122300915e-4
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.197e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 3.148998e6

QD
type: SiteQuality
SIO_000300: 1.156e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

GenotypeQuality
all individuals: 40705
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1718
bin: 8.75e1
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: 10144
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.103e1

DP
type: SiteQuality
SIO_000300: 3.147672e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.308e0

FS
type: SiteQuality
SIO_000300: 5.222e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.965e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e0

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 7.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.854158454867954e-5
allele num: 10148
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

FS
type: SiteQuality
SIO_000300: 2.703e0

DP
type: SiteQuality
SIO_000300: 3.147604e6

QD
type: SiteQuality
SIO_000300: 1.065e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 40704
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 10138
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.3e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 3.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.341e0

QD
type: SiteQuality
SIO_000300: 1.308e1

MQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.43e-1

DP
type: SiteQuality
SIO_000300: 3.147123e6

GenotypeQuality
all individuals: 2723
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5053
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
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: 906
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: 1.498621268433042e-5
allele num: 66728
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

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-2

QD
type: SiteQuality
SIO_000300: 1.259e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

FS
type: SiteQuality
SIO_000300: 6.068e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.147e0

DP
type: SiteQuality
SIO_000300: 3.147228e6

MQ
type: SiteQuality
SIO_000300: 5.934e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

GenotypeQuality
all individuals: 1719
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 40688
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.25e1
variant carriers: 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 (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
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

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: -6.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.147653e6

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.372e1

GenotypeQuality
all individuals: 2574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3314
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2833
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40673
bin: 9.75e1
variant carriers: 1

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: 16512
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: 9982
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 6.135e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 3.14547e6

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.611e0

QD
type: SiteQuality
SIO_000300: 2.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.509e0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2833
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2576
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 0
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: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.905e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.014e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.173e0

VQSLOD
type: SiteQuality
SIO_000300: -3.429e0

QD
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 3.145388e6

GenotypeQuality
all individuals: 127
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2569
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40677
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 7.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 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: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.35e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 3.14469e6

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 4.642e0

MQRankSum
type: SiteQuality
SIO_000300: -1.831e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.24e-1

MQ
type: SiteQuality
SIO_000300: 5.587e1

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3282
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 157
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1697
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 2796
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 5

Other
type: Population
allele count: 3
allele frequency: 3.333333333333334e-3
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730403183941858e-4
allele num: 11558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 20
allele frequency: 3.121098626716604e-3
allele num: 6408
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.22799836266885e-3
allele num: 9772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 48
allele frequency: 7.248346470961312e-4
allele num: 66222
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.318034306907742e-4
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.163e0

FS
type: SiteQuality
SIO_000300: 6.804900000000001e1

VQSLOD
type: SiteQuality
SIO_000300: -2.363e1

QD
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.128e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 3.143053e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1697
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2796
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1421
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3282
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 40182
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 2506
bin: 7.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.496878901373283e-3
allele num: 6408
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.125665165779779e-3
allele num: 9772
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 4.832230980640875e-4
allele num: 66222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.804900000000001e1

MQ
type: SiteQuality
SIO_000300: 5.916e1

QD
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: -2.363e1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.128e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.163e0

DP
type: SiteQuality
SIO_000300: 3.143053e6

GenotypeQuality
all individuals: 126
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3164
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2439
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64028
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168224299065421e-4
allele num: 8560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

FS
type: SiteQuality
SIO_000300: 1.16104e2

QD
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 3.156405e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e0

VQSLOD
type: SiteQuality
SIO_000300: -6.726000000000001e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.818e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.99e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

GenotypeQuality
all individuals: 161
bin: 1.25e1
variant carriers: 48

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 42

GenotypeQuality
all individuals: 158
bin: 3.75e1
variant carriers: 41

GenotypeQuality
all individuals: 170
bin: 2.75e1
variant carriers: 49

GenotypeQuality
all individuals: 1358
bin: 7.25e1
variant carriers: 38

GenotypeQuality
all individuals: 4623
bin: 6.25e1
variant carriers: 32

GenotypeQuality
all individuals: 2439
bin: 6.75e1
variant carriers: 23

GenotypeQuality
all individuals: 1628
bin: 8.75e1
variant carriers: 26

GenotypeQuality
all individuals: 38701
bin: 9.75e1
variant carriers: 545

South Asian
type: Population
allele count: 4
allele frequency: 2.423654871546292e-4
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 22
allele frequency: 1.915375239421905e-3
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 574
allele frequency: 8.964827887799088e-3
allele num: 64028
num of homozygotes: 0

African
type: Population
allele count: 147
allele frequency: 1.613611416026345e-2
allele num: 9110
num of homozygotes: 0

Other
type: Population
allele count: 22
allele frequency: 2.582159624413146e-2
allele num: 852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 283
allele frequency: 4.707252162341983e-2
allele num: 6012
num of homozygotes: 0

East Asian
type: Population
allele count: 38
allele frequency: 4.439252336448598e-3
allele num: 8560
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e0

VQSLOD
type: SiteQuality
SIO_000300: -6.726000000000001e1

FS
type: SiteQuality
SIO_000300: 1.16104e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.99e0

QD
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

DP
type: SiteQuality
SIO_000300: 3.156405e6

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

MQ
type: SiteQuality
SIO_000300: 5.913e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.818e0

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

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

GenotypeQuality
all individuals: 2506
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2782
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 2638
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variant carriers: 0

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

GenotypeQuality
all individuals: 1645
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 2
allele frequency: 2.015722636565209e-4
allele num: 9922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.459e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.51e1

DP
type: SiteQuality
SIO_000300: 3.117068e6

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 8.077e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.05e0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2633
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 7
allele frequency: 7.055029227978231e-4
allele num: 9922
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
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: 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: 8
allele frequency: 1.199544173214179e-4
allele num: 66692
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

DP
type: SiteQuality
SIO_000300: 3.115822e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.88e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.359e1

FS
type: SiteQuality
SIO_000300: 2.428e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.45e-1

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

GenotypeQuality
all individuals: 2635
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2780
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5214
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998860433035446e-5
allele num: 66692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 3.113666e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.821e0

FS
type: SiteQuality
SIO_000300: 4.804e0

QD
type: SiteQuality
SIO_000300: 1.217e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

GenotypeQuality
all individuals: 40859
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2779
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 5179
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 137
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variant carriers: 0

GenotypeQuality
all individuals: 3229
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 904
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1302e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.578e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.013e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 3.111663e6

QD
type: SiteQuality
SIO_000300: 1.291e1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

GenotypeQuality
all individuals: 145
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2502
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5117
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3228
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variant carriers: 0

GenotypeQuality
all individuals: 40858
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1389
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
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: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
SIO_000300: 3.109879e6

VQSLOD
type: SiteQuality
SIO_000300: -4.251e-1

FS
type: SiteQuality
SIO_000300: 3.422e0

QD
type: SiteQuality
SIO_000300: 1.713e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.072e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

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

GenotypeQuality
all individuals: 1646
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40859
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2602
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
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GenotypeQuality
all individuals: 2498
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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: 11572
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: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: -1.77e0

MQRankSum
type: SiteQuality
SIO_000300: -1.015e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.585e0

QD
type: SiteQuality
SIO_000300: 1.347e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

FS
type: SiteQuality
SIO_000300: 1.2514e1

DP
type: SiteQuality
SIO_000300: 3.108302e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.73e-1

GenotypeQuality
all individuals: 2496
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 7.5e0
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GenotypeQuality
all individuals: 2590
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40859
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1384
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.785697755149271e-4
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 11568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.107773e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.847e0

FS
type: SiteQuality
SIO_000300: 8.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.32e1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.32e-1

GenotypeQuality
all individuals: 4822
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2551
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.06e-1

DP
type: SiteQuality
SIO_000300: 3.103197e6

FS
type: SiteQuality
SIO_000300: 5.03e0

VQSLOD
type: SiteQuality
SIO_000300: 6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.26e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

GenotypeQuality
all individuals: 211
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2466
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40855
bin: 9.75e1
variant carriers: 108

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

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

East Asian
type: Population
allele count: 106
allele frequency: 1.230554910610634e-2
allele num: 8614
num of homozygotes: 1

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.094135e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 5.68e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

QD
type: SiteQuality
SIO_000300: 1.353e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.095e0

GenotypeQuality
all individuals: 3234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4212
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40816
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
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: 16502
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.92e1

VQSLOD
type: SiteQuality
SIO_000300: -3.261e-1

QD
type: SiteQuality
SIO_000300: 1.585e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.090874e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.056e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
all individuals: 2468
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.751e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.085292e6

VQSLOD
type: SiteQuality
SIO_000300: 6.99e-1

QD
type: SiteQuality
SIO_000300: 1.477e1

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40804
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 157
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
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: 16498
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.379e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.168e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.477e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 3.078643e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

GenotypeQuality
all individuals: 40801
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2009
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2444
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2742
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
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: 2
allele frequency: 2.044153720359771e-4
allele num: 9784
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 3.075058e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

QD
type: SiteQuality
SIO_000300: 1.58e1

GenotypeQuality
all individuals: 330
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3073
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3174
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.492091912861832e-4
allele num: 6702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.67e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.854e0

QD
type: SiteQuality
SIO_000300: 4.02e0

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.511e0

DP
type: SiteQuality
SIO_000300: 1.19798e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.19e-1

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5182
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7604
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 7.575757575757576e-3
allele num: 132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.813731007315701e-4
allele num: 3554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.04e-1

FS
type: SiteQuality
SIO_000300: 4.218e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.39e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 1.4796e5

QD
type: SiteQuality
SIO_000300: 1.342e1

GenotypeQuality
all individuals: 33
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 79
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5247
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1562
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.59e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.49211e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e-1

QD
type: SiteQuality
SIO_000300: 9.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.27e-1

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

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 127
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 1.079136690647482e-2
allele num: 556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.49553e5

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

FS
type: SiteQuality
SIO_000300: 4.564e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.36e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.545e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
all individuals: 162
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.135e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.31e0

FS
type: SiteQuality
SIO_000300: 1.229e0

VQSLOD
type: SiteQuality
SIO_000300: 4.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.28e-2

DP
type: SiteQuality
SIO_000300: 1.48893e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 34
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5193
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0