4-47953523-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47953523
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47953523
    reference: chr 4
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.327-37A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.108-37A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-7518T>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.120-37A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.120-37A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.120-37A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.120-37A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.120-37A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.120-37A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+36802T>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.120-37A>G
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

4-47953525-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47953525
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47953525
    reference: chr 4
allele count: 1
allele frequency: 8.28953694646617e-6
allele num: 120634
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.120-39A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.120-39A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.120-39A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.120-39A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.108-39A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.120-39A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.120-39A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.327-39A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+36804T>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.120-39A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-7516T>G
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

4-47954557-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954557
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954557
    reference: chr 4
allele count: 2
allele frequency: 1.663367654152597e-5
allele num: 120238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.119+43A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37836T>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.119+43A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6484T>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.119+43A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.119+43A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.107+43A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.119+43A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.119+43A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.119+43A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.326+43A>G
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

4-47954561-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954561
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954561
    reference: chr 4
allele count: 1
allele frequency: 8.316976612661764e-6
allele num: 120236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.119+39C>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.119+39C>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.119+39C>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.326+39C>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.119+39C>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.119+39C>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.119+39C>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.107+39C>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6480G>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.119+39C>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37840G>C
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP

4-47954575-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954575
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954575
    reference: chr 4
allele count: 2
allele frequency: 1.661543573980228e-5
allele num: 120370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6466T>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.119+25A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.119+25A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.119+25A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.119+25A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.119+25A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.107+25A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.326+25A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.119+25A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37854T>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.119+25A>G
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

4-47954576-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954576
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954576
    reference: chr 4
allele count: 1
allele frequency: 8.306889734345666e-6
allele num: 120382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.107+24C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.119+24C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.119+24C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.119+24C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.119+24C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6465G>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.119+24C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.326+24C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.119+24C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.119+24C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37855G>A
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11250
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

4-47954578-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954578
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954578
    reference: chr 4
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.119+22T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.119+22T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.326+22T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6463A>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.119+22T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.119+22T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.119+22T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.107+22T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.119+22T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37857A>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.119+22T>C
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11243
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

4-47954579-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954579
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954579
    reference: chr 4
allele count: 1
allele frequency: 8.304406317992327e-6
allele num: 120418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37858T>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6462T>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.119+21A>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.107+21A>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.119+21A>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.119+21A>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.119+21A>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.119+21A>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.119+21A>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.326+21A>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.119+21A>T
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

4-47954579-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954579
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954579
    reference: chr 4
allele count: 1
allele frequency: 8.304406317992327e-6
allele num: 120418
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.107+21A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.119+21A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.119+21A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.326+21A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.119+21A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.119+21A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.119+21A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37858T>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6462T>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.119+21A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.119+21A>C
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8463
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

4-47954594-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954594
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954594
    reference: chr 4
allele count: 1
allele frequency: 8.297653423611802e-6
allele num: 120516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.119+6T>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.119+6T>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.326+6T>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.119+6T>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.119+6T>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.119+6T>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.107+6T>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.119+6T>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37873A>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.119+6T>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6447A>T
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.326+6T>A
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

4-47954595-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954595
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954595
    reference: chr 4
allele count: 1
allele frequency: 8.29737802854298e-6
allele num: 120520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.119+5A>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.119+5A>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.119+5A>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.119+5A>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.326+5A>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.119+5A>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6446T>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.107+5A>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.119+5A>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37874T>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.119+5A>T
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.326+5A>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-47954598-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954598
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954598
    reference: chr 4
allele count: 1
allele frequency: 8.297240337863626e-6
allele num: 120522
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37877A>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.119+2T>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.119+2T>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.119+2T>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.326+2T>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.119+2T>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.119+2T>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.119+2T>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.119+2T>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.107+2T>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6443A>C
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11266
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: c.326+2T>G
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

4-47954617-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954617
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954617
    reference: chr 4
allele count: 4
allele frequency: 3.317684919463199e-5
allele num: 120566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.102G>A
  hgvsp: ENSP00000443401.1:p.Met34Ile
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.102G>A
  hgvsp: ENSP00000423721.1:p.Met34Ile
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.102G>A
  hgvsp: ENSP00000426862.1:p.Met34Ile
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37896C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.102G>A
  hgvsp: ENSP00000421110.1:p.Met34Ile
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.90G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6424C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.102G>A
  hgvsp: ENSP00000389881.2:p.Met34Ile
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.102G>A
  hgvsp: ENSP00000423327.1:p.Met34Ile
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.102G>A
  hgvsp: ENSP00000351320.4:p.Met34Ile
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.309G>A
  hgvsp: ENSP00000384264.3:p.Met103Ile
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Met103Ile
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

4-47954620-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954620
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954620
    reference: chr 4
allele count: 2
allele frequency: 1.658759911090469e-5
allele num: 120572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.99G>A
  hgvsp: ENST00000420489.2:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37899C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.99G>A
  hgvsp: ENST00000513178.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.99G>A
  hgvsp: ENST00000358519.4:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.99G>A
  hgvsp: ENST00000514170.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.99G>A
  hgvsp: ENST00000514520.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6421C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.87G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.306G>A
  hgvsp: ENST00000402813.3:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.99G>A
  hgvsp: ENST00000504722.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.99G>A
  hgvsp: ENST00000544810.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15014
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg102Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

4-47954624-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954624
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954624
    reference: chr 4
allele count: 1467
allele frequency: 1.216841686159359e-2
allele num: 120558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6417C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.95G>A
  hgvsp: ENSP00000423327.1:p.Arg32Gln
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.95G>A
  hgvsp: ENSP00000443401.1:p.Arg32Gln
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.95G>A
  hgvsp: ENSP00000421110.1:p.Arg32Gln
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.95G>A
  hgvsp: ENSP00000426862.1:p.Arg32Gln
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.95G>A
  hgvsp: ENSP00000351320.4:p.Arg32Gln
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.302G>A
  hgvsp: ENSP00000384264.3:p.Arg101Gln
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.95G>A
  hgvsp: ENSP00000423721.1:p.Arg32Gln
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37903C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.95G>A
  hgvsp: ENSP00000389881.2:p.Arg32Gln
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.83G>A
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 26178
  bin: 2.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 3.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 11116
  bin: 3.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 9.75e1
  variant carriers: 252
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 14740
  bin: 2.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
hgvs: p.Arg101Gln
num of homozygotes: 9
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

4-47954625-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954625
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954625
    reference: chr 4
allele count: 10
allele frequency: 8.294487483618387e-5
allele num: 120562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.94C>T
  hgvsp: ENSP00000443401.1:p.Arg32Ter
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.94C>T
  hgvsp: ENSP00000389881.2:p.Arg32Ter
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.301C>T
  hgvsp: ENSP00000384264.3:p.Arg101Ter
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.94C>T
  hgvsp: ENSP00000426862.1:p.Arg32Ter
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.82C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37904G>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.94C>T
  hgvsp: ENSP00000421110.1:p.Arg32Ter
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.94C>T
  hgvsp: ENSP00000351320.4:p.Arg32Ter
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.94C>T
  hgvsp: ENSP00000423327.1:p.Arg32Ter
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.94C>T
  hgvsp: ENSP00000423721.1:p.Arg32Ter
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6416G>A
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11315
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg101Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

4-47954647-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954647
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954647
    reference: chr 4
allele count: 1
allele frequency: 8.300683976359652e-6
allele num: 120472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.72A>G
  hgvsp: ENST00000513178.1:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.279A>G
  hgvsp: ENST00000402813.3:c.279A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.72A>G
  hgvsp: ENST00000358519.4:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.72A>G
  hgvsp: ENST00000504722.1:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.72A>G
  hgvsp: ENST00000420489.2:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37926T>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.72A>G
  hgvsp: ENST00000514520.1:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6394T>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.72A>G
  hgvsp: ENST00000514170.1:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.60A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.72A>G
  hgvsp: ENST00000544810.1:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val93Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

4-47954651-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954651
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954651
    reference: chr 4
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.68T>C
  hgvsp: ENSP00000423327.1:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.56T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6390A>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.68T>C
  hgvsp: ENSP00000421110.1:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.68T>C
  hgvsp: ENSP00000443401.1:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.68T>C
  hgvsp: ENSP00000426862.1:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.275T>C
  hgvsp: ENSP00000384264.3:p.Ile92Thr
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.68T>C
  hgvsp: ENSP00000423721.1:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37930A>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.68T>C
  hgvsp: ENSP00000351320.4:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.68T>C
  hgvsp: ENSP00000389881.2:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile92Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

4-47954656-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954656
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954656
    reference: chr 4
allele count: 2
allele frequency: 1.661212352775055e-5
allele num: 120394
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.270T>C
  hgvsp: ENST00000402813.3:c.270T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37935A>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.63T>C
  hgvsp: ENST00000513178.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6385A>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.63T>C
  hgvsp: ENST00000358519.4:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.63T>C
  hgvsp: ENST00000514170.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.51T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.63T>C
  hgvsp: ENST00000544810.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.63T>C
  hgvsp: ENST00000514520.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.63T>C
  hgvsp: ENST00000420489.2:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.63T>C
  hgvsp: ENST00000504722.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14649
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn90Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

4-47954657-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954657
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954657
    reference: chr 4
allele count: 2
allele frequency: 1.661571181709424e-5
allele num: 120368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.62A>G
  hgvsp: ENSP00000423721.1:p.Asn21Ser
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.62A>G
  hgvsp: ENSP00000421110.1:p.Asn21Ser
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6384T>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.62A>G
  hgvsp: ENSP00000443401.1:p.Asn21Ser
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.62A>G
  hgvsp: ENSP00000389881.2:p.Asn21Ser
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37936T>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.62A>G
  hgvsp: ENSP00000423327.1:p.Asn21Ser
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.50A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.62A>G
  hgvsp: ENSP00000351320.4:p.Asn21Ser
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.269A>G
  hgvsp: ENSP00000384264.3:p.Asn90Ser
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.62A>G
  hgvsp: ENSP00000426862.1:p.Asn21Ser
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11260
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn90Ser
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

4-47954658-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954658
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954658
    reference: chr 4
allele count: 1
allele frequency: 8.307579835842223e-6
allele num: 120372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6383T>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.61A>C
  hgvsp: ENSP00000443401.1:p.Asn21His
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.61A>C
  hgvsp: ENSP00000423721.1:p.Asn21His
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.268A>C
  hgvsp: ENSP00000384264.3:p.Asn90His
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.49A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.61A>C
  hgvsp: ENSP00000423327.1:p.Asn21His
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37937T>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.61A>C
  hgvsp: ENSP00000426862.1:p.Asn21His
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.61A>C
  hgvsp: ENSP00000421110.1:p.Asn21His
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.61A>C
  hgvsp: ENSP00000351320.4:p.Asn21His
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.61A>C
  hgvsp: ENSP00000389881.2:p.Asn21His
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn90His
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-47954670-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954670
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954669
    reference: chr 4
allele count: 1
allele frequency: 8.31849867735871e-6
allele num: 120214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6367delA
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.48delT
  hgvsp: ENSP00000426862.1:p.Phe16LeufsTer2
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.48delT
  hgvsp: ENSP00000389881.2:p.Phe16LeufsTer2
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.48delT
  hgvsp: ENSP00000423327.1:p.Phe16LeufsTer2
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.48delT
  hgvsp: ENSP00000423721.1:p.Phe16LeufsTer2
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.36delT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.48delT
  hgvsp: ENSP00000421110.1:p.Phe16LeufsTer2
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37953delA
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.255delT
  hgvsp: ENSP00000384264.3:p.Phe85LeufsTer2
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.48delT
  hgvsp: ENSP00000443401.1:p.Phe16LeufsTer2
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.48delT
  hgvsp: ENSP00000351320.4:p.Phe16LeufsTer2
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe85LeufsTer2
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: CA
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

4-47954671-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954671
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954671
    reference: chr 4
allele count: 4
allele frequency: 3.327344113928263e-5
allele num: 120216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.48T>C
  hgvsp: ENST00000513178.1:c.48T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.255T>C
  hgvsp: ENST00000402813.3:c.255T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.48T>C
  hgvsp: ENST00000544810.1:c.48T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.48T>C
  hgvsp: ENST00000358519.4:c.48T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37950A>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.36T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.48T>C
  hgvsp: ENST00000514520.1:c.48T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.48T>C
  hgvsp: ENST00000504722.1:c.48T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.48T>C
  hgvsp: ENST00000420489.2:c.48T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.48T>C
  hgvsp: ENST00000514170.1:c.48T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6370A>G
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe85Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

4-47954679-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954679
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954679
    reference: chr 4
allele count: 1
allele frequency: 8.328475056217207e-6
allele num: 120070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.40C>G
  hgvsp: ENSP00000443401.1:p.Gln14Glu
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.40C>G
  hgvsp: ENSP00000421110.1:p.Gln14Glu
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.40C>G
  hgvsp: ENSP00000423721.1:p.Gln14Glu
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.40C>G
  hgvsp: ENSP00000426862.1:p.Gln14Glu
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.40C>G
  hgvsp: ENSP00000351320.4:p.Gln14Glu
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.40C>G
  hgvsp: ENSP00000389881.2:p.Gln14Glu
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.247C>G
  hgvsp: ENSP00000384264.3:p.Gln83Glu
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37958G>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6362G>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.28C>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.40C>G
  hgvsp: ENSP00000423327.1:p.Gln14Glu
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln83Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

4-47954680-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954680
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954680
    reference: chr 4
allele count: 1
allele frequency: 8.329446258412741e-6
allele num: 120056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.39G>A
  hgvsp: ENST00000514520.1:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.39G>A
  hgvsp: ENST00000504722.1:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.39G>A
  hgvsp: ENST00000544810.1:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.246G>A
  hgvsp: ENST00000402813.3:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.39G>A
  hgvsp: ENST00000514170.1:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.39G>A
  hgvsp: ENST00000358519.4:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6361C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37959C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.39G>A
  hgvsp: ENST00000513178.1:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.27G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.39G>A
  hgvsp: ENST00000420489.2:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14507
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln82Gln
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

4-47954690-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954690
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954690
    reference: chr 4
allele count: 1
allele frequency: 8.34432002136146e-6
allele num: 119842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.29T>A
  hgvsp: ENSP00000423721.1:p.Ile10Asn
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.236T>A
  hgvsp: ENSP00000384264.3:p.Ile79Asn
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.29T>A
  hgvsp: ENSP00000421110.1:p.Ile10Asn
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.17T>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6351A>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.29T>A
  hgvsp: ENSP00000423327.1:p.Ile10Asn
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.29T>A
  hgvsp: ENSP00000351320.4:p.Ile10Asn
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.29T>A
  hgvsp: ENSP00000426862.1:p.Ile10Asn
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.29T>A
  hgvsp: ENSP00000389881.2:p.Ile10Asn
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.29T>A
  hgvsp: ENSP00000443401.1:p.Ile10Asn
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37969A>T
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile79Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

4-47954691-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954691
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954691
    reference: chr 4
allele count: 8
allele frequency: 6.678130791191546e-5
allele num: 119794
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.28A>G
  hgvsp: ENSP00000423327.1:p.Ile10Val
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.28A>G
  hgvsp: ENSP00000351320.4:p.Ile10Val
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.28A>G
  hgvsp: ENSP00000443401.1:p.Ile10Val
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.28A>G
  hgvsp: ENSP00000426862.1:p.Ile10Val
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198515
  ensembl transcript: ENST00000506118
  gene symbol: CNGA1
  hgvsc: ENST00000506118.1:n.16A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.28A>G
  hgvsp: ENSP00000421110.1:p.Ile10Val
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.28A>G
  hgvsp: ENSP00000389881.2:p.Ile10Val
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6350T>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37970T>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.28A>G
  hgvsp: ENSP00000423721.1:p.Ile10Val
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.235A>G
  hgvsp: ENSP00000384264.3:p.Ile79Val
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26433
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Ile79Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

4-47954717-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954717
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954717
    reference: chr 4
allele count: 1
allele frequency: 8.453657052040712e-6
allele num: 118292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.2T>C
  hgvsp: ENSP00000423721.1:p.Met1?
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6324A>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.2T>C
  hgvsp: ENSP00000423327.1:p.Met1?
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.2T>C
  hgvsp: ENSP00000421110.1:p.Met1?
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.2T>C
  hgvsp: ENSP00000351320.4:p.Met1?
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.2T>C
  hgvsp: ENSP00000443401.1:p.Met1?
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.2T>C
  hgvsp: ENSP00000389881.2:p.Met1?
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.209T>C
  hgvsp: ENSP00000384264.3:p.Met70Thr
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.2T>C
  hgvsp: ENSP00000426862.1:p.Met1?
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+37996A>G
  variant of: http://identifiers.org/hgnc/27194
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

4-47954727-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954727
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954727
    reference: chr 4
allele count: 1
allele frequency: 8.523550570225534e-6
allele num: 117322
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.206-7T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-2-7T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-2-7T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-2-7T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-7T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-2-7T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+38006A>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-7T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6314A>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.-9T>C
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23898
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37500
  bin: 6.25e1
  variant carriers: 0
hgvs: c.206-7T>C
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

4-47954731-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954731
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954730
    reference: chr 4
allele count: 2
allele frequency: 1.711889069588291e-5
allele num: 116830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+38011delG
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-12delC
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-12delC
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-2-12delC
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.206-12delC
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-2-12delC
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6309delG
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-2-12delC
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.-14delC
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-2-12delC
  variant of: http://identifiers.org/hgnc/2148
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10167
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7031
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: AG
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-47954735-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954735
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954735
    reference: chr 4
allele count: 2
allele frequency: 1.723632728338246e-5
allele num: 116034
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.206-15C>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.-17C>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+38014G>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-2-15C>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-15C>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-2-15C>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6306G>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-2-15C>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-2-15C>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-15C>A
  variant of: http://identifiers.org/hgnc/2148
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9871
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

4-47954741-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954741
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954741
    reference: chr 4
allele count: 18
allele frequency: 1.564809180213857e-4
allele num: 115030
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.206-21A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.-23A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-21A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-2-21A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+38020T>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-2-21A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-2-21A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6300T>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-2-21A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-21A>C
  variant of: http://identifiers.org/hgnc/2148
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13124
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

4-47954745-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954745
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954745
    reference: chr 4
allele count: 2
allele frequency: 1.753555333438547e-5
allele num: 114054
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-2-25A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-2-25A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-2-25A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.-27A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-25A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6296T>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.206-25A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+38024T>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-25A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-2-25A>G
  variant of: http://identifiers.org/hgnc/2148
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15225
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8415
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

4-47954752-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954752
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954752
    reference: chr 4
allele count: 13
allele frequency: 1.170791455023596e-4
allele num: 111036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+38031G>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-32C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-2-32C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-2-32C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.-34C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-2-32C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.206-32C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-32C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6289G>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-2-32C>T
  variant of: http://identifiers.org/hgnc/2148
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20017
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9132
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11079
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6391
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

4-47954766-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954766
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954766
    reference: chr 4
allele count: 1
allele frequency: 1.071926251473899e-5
allele num: 93290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-2-46A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6275T>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-46A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-2-46A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+38045T>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-2-46A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-46A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.-48A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-2-46A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.206-46A>C
  variant of: http://identifiers.org/hgnc/2148
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

4-47954767-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47954767
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47954767
    reference: chr 4
allele count: 1
allele frequency: 1.069839096199931e-5
allele num: 93472
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.206-47A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.563+38046T>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-2-47A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-2-47A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-47A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-2-47A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000421110
  ensembl transcript: ENST00000514520
  gene symbol: CNGA1
  hgvsc: ENST00000514520.1:c.-49A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-47A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000500571
  gene symbol: NIPAL1
  hgvsc: ENST00000500571.2:n.479-6274T>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-2-47A>C
  variant of: http://identifiers.org/hgnc/2148
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-47972881-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47972881
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47972881
    reference: chr 4
allele count: 1
allele frequency: 9.300595238095238e-5
allele num: 10752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18161A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10529A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-54204T>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-3+32A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10529A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.205+32A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18161A>G
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10529A>G
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

4-47972892-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47972892
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47972891
    reference: chr 4
allele count: 2
allele frequency: 1.861157640052112e-4
allele num: 10746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10517delG
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18173delG
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.205+20delG
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10517delG
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-3+20delG
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10517delG
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-54191delC
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18173delG
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: GC
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

4-47972895-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47972895
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47972895
    reference: chr 4
allele count: 1
allele frequency: 9.30925339787749e-5
allele num: 10742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18175T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-3+18T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10515T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-54190A>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.205+18T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10515T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10515T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18175T>C
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

4-47972988-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47972988
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47972988
    reference: chr 4
allele count: 1
allele frequency: 9.386146048432514e-5
allele num: 10654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18268G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10422G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-78G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-54097C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10422G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18268G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.130G>A
  hgvsp: ENSP00000384264.3:p.Val44Ile
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10422G>A
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val44Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

4-47973031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47973031
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47973031
    reference: chr 4
allele count: 1568
allele frequency: 1.466791393826005e-1
allele num: 10690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18311C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18311C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10379C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-121C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.87C>T
  hgvsp: ENST00000402813.3:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10379C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10379C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-54054G>A
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 2.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 242
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 2.5e0
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 2.75e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 270
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 9.75e1
  variant carriers: 1408
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 8.75e1
  variant carriers: 9
hgvs: p.Phe29Phe
num of homozygotes: 119
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

4-47973037-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47973037
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47973037
    reference: chr 4
allele count: 1
allele frequency: 9.349289454001496e-5
allele num: 10696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18317C>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10373C>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10373C>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-54048G>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.81C>A
  hgvsp: ENSP00000384264.3:p.Ser27Arg
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10373C>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18317C>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-127C>A
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser27Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

4-47973059-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47973059
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47973059
    reference: chr 4
allele count: 1
allele frequency: 9.382623381497467e-5
allele num: 10658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10351G>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-149G>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.59G>C
  hgvsp: ENSP00000384264.3:p.Ser20Thr
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-54026C>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10351G>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10351G>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18339G>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18339G>C
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  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 depth: GenotypeDepth
  all individuals: 1832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser20Thr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

4-47973071-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47973071
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47973071
    reference: chr 4
allele count: 5
allele frequency: 4.707211447938241e-4
allele num: 10622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10339C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-54014G>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18351C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.47C>T
  hgvsp: ENSP00000384264.3:p.Ser16Leu
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10339C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-161C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10339C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18351C>T
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser16Leu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

4-47973100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47973100
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47973100
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 10524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18380G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.18G>A
  hgvsp: ENST00000402813.3:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-190G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-53985C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18380G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10310G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10310G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10310G>A
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser6Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

4-47973101-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47973101
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47973101
    reference: chr 4
allele count: 4
allele frequency: 3.797228023542814e-4
allele num: 10534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-191C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10309C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.17C>T
  hgvsp: ENSP00000384264.3:p.Ser6Leu
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-53984G>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10309C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18381C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18381C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10309C>T
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser6Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

4-47973107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47973107
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47973107
    reference: chr 4
allele count: 2
allele frequency: 1.904399162064369e-4
allele num: 10502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10303G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.11G>A
  hgvsp: ENSP00000384264.3:p.Arg4His
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18387G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10303G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10303G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-53978C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-197G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18387G>A
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg4His
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

4-47973108-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47973108
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47973108
    reference: chr 4
allele count: 1
allele frequency: 9.496676163342829e-5
allele num: 10530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10302C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10302C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-198C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18388C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-53977G>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.10C>T
  hgvsp: ENSP00000384264.3:p.Arg4Cys
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10302C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18388C>T
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg4Cys
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

4-47973110-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47973110
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47973110
    reference: chr 4
allele count: 6338
allele frequency: 5.967984934086629e-1
allele num: 10620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-200C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18390C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10300C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10300C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10300C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18390C>T
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-53975G>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.8C>T
  hgvsp: ENSP00000384264.3:p.Ser3Phe
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 2.75e1
  variant carriers: 864
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.25e1
  variant carriers: 983
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 3.75e1
  variant carriers: 700
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 339
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.5e0
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 2.25e1
  variant carriers: 660
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 406
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.25e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 6.25e1
  variant carriers: 107
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.5e0
  variant carriers: 120
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 26
hgvs: p.Ser3Phe
num of homozygotes: 1935
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

4-47973114-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47973114
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47973114
    reference: chr 4
allele count: 51
allele frequency: 4.824063564131668e-3
allele num: 10572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10296G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18394G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10296G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.4G>A
  hgvsp: ENSP00000384264.3:p.Glu2Lys
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-204G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-53971C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18394G>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10296G>A
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Glu2Lys
num of homozygotes: 1
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

4-47973119-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47973119
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47973118
    reference: chr 4
allele count: 3134
allele frequency: 4.263945578231292e-1
allele num: 7350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10290delT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.1-3delT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18400delT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10290delT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-207-3delT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-53954delA
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10290delT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18400delT
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: splice region
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 367
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.25e1
  variant carriers: 696
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 90
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: 75
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.25e1
  variant carriers: 778
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 2.75e1
  variant carriers: 934
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 428
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 143
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.75e1
  variant carriers: 130
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 1065
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.25e1
  variant carriers: 123
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 2.5e0
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 6.75e1
  variant carriers: 147
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 6.25e1
  variant carriers: 153
hgvs: c.1-3delT
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: TA
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

4-47973119-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47973119
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47973119
    reference: chr 4
allele count: 2
allele frequency: 2.72108843537415e-4
allele num: 7350
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.1-2A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10291A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-53966T>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-207-2A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18399A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10291A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18399A>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10291A>C
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: splice acceptor
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  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 depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1-2A>C
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

4-47973119-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47973119
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47973120
    reference: chr 4
allele count: 279
allele frequency: 3.795918367346938e-2
allele num: 7350
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10290dupT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18400dupT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10290dupT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-53954dupA
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-207-3dupT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10290dupT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.1-3dupT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18400dupT
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: splice region
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 2.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.5e0
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.75e1
  variant carriers: 1
hgvs: c.1-3dupT
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

4-47973119-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47973119
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47973117
    reference: chr 4
allele count: 24
allele frequency: 3.26530612244898e-3
allele num: 7350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-53955_564-53954delAA
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-207-4_-207-3delTT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10289_-3+10290delTT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10289_-3+10290delTT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10289_-3+10290delTT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.1-4_1-3delTT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18401_-2-18400delTT
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18401_-2-18400delTT
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: splice region
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 3
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 depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 2
hgvs: c.1-4_1-3delTT
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: TAA
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

4-47973121-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47973121
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47973121
    reference: chr 4
allele count: 1
allele frequency: 7.961783439490446e-4
allele num: 1256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10289T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-53964A>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-207-4T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10289T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18401T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.1-4T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18401T>C
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10289T>C
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: splice region
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4439
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1-4T>C
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

4-47973131-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47973131
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 47973131
    reference: chr 4
allele count: 52
allele frequency: 4.936396430605658e-3
allele num: 10534
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000384264
  ensembl transcript: ENST00000402813
  gene symbol: CNGA1
  hgvsc: ENST00000402813.3:c.1-14T>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-53954A>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000443401
  ensembl transcript: ENST00000544810
  gene symbol: CNGA1
  hgvsc: ENST00000544810.1:c.-207-14T>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423327
  ensembl transcript: ENST00000513178
  gene symbol: CNGA1
  hgvsc: ENST00000513178.1:c.-2-18411T>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000426862
  ensembl transcript: ENST00000514170
  gene symbol: CNGA1
  hgvsc: ENST00000514170.1:c.-3+10279T>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000423721
  ensembl transcript: ENST00000504722
  gene symbol: CNGA1
  hgvsc: ENST00000504722.1:c.-2-18411T>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000389881
  ensembl transcript: ENST00000420489
  gene symbol: CNGA1
  hgvsc: ENST00000420489.2:c.-3+10279T>A
  variant of: http://identifiers.org/hgnc/2148
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198515
  ensembl protein: ENSP00000351320
  ensembl transcript: ENST00000358519
  gene symbol: CNGA1
  hgvsc: ENST00000358519.4:c.-3+10279T>A
  variant of: http://identifiers.org/hgnc/2148
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ

4-48018812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018812
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48018812
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 20846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-8273G>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000295461
  ensembl transcript: ENST00000295461
  gene symbol: NIPAL1
  hgvsc: ENST00000295461.5:c.-45G>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000508180
  gene symbol: NIPAL1
  hgvsc: ENST00000508180.1:n.24G>A
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24976
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22740
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6968
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6544
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18647
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS

4-48018815-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018815
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48018815
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 21004
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000295461
  ensembl transcript: ENST00000295461
  gene symbol: NIPAL1
  hgvsc: ENST00000295461.5:c.-42G>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-8270G>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000508180
  gene symbol: NIPAL1
  hgvsc: ENST00000508180.1:n.27G>A
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23071
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24644
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18933
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6572
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5439
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14970
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

4-48018826-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018826
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48018826
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 21742
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000295461
  ensembl transcript: ENST00000295461
  gene symbol: NIPAL1
  hgvsc: ENST00000295461.5:c.-31G>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000508180
  gene symbol: NIPAL1
  hgvsc: ENST00000508180.1:n.38G>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-8259G>C
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25773
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21962
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18420
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4615
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/4-48018827-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018827
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48018827
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 21916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000425795
  ensembl transcript: ENST00000511852
  gene symbol: NIPAL1
  hgvsc: ENST00000511852.1:c.-30C>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000295461
  ensembl transcript: ENST00000295461
  gene symbol: NIPAL1
  hgvsc: ENST00000295461.5:c.-30C>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000508180
  gene symbol: NIPAL1
  hgvsc: ENST00000508180.1:n.39C>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-8258C>A
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26170
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4391
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20986
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

4-48018827-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018827
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48018827
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 21916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000425795
  ensembl transcript: ENST00000511852
  gene symbol: NIPAL1
  hgvsc: ENST00000511852.1:c.-30C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000508180
  gene symbol: NIPAL1
  hgvsc: ENST00000508180.1:n.39C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000295461
  ensembl transcript: ENST00000295461
  gene symbol: NIPAL1
  hgvsc: ENST00000295461.5:c.-30C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-8258C>T
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20986
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/4-48018829-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018829
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48018829
    reference: chr 4
allele count: 2
allele frequency: 9.047317470370036e-5
allele num: 22106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000425795
  ensembl transcript: ENST00000511852
  gene symbol: NIPAL1
  hgvsc: ENST00000511852.1:c.-28C>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000295461
  ensembl transcript: ENST00000295461
  gene symbol: NIPAL1
  hgvsc: ENST00000295461.5:c.-28C>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000508180
  gene symbol: NIPAL1
  hgvsc: ENST00000508180.1:n.41C>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-8256C>A
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 151
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

4-48018841-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018841
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48018841
    reference: chr 4
allele count: 1
allele frequency: 4.106776180698152e-5
allele num: 24350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-8244G>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000295461
  ensembl transcript: ENST00000295461
  gene symbol: NIPAL1
  hgvsc: ENST00000295461.5:c.-16G>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000425795
  ensembl transcript: ENST00000511852
  gene symbol: NIPAL1
  hgvsc: ENST00000511852.1:c.-16G>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000508180
  gene symbol: NIPAL1
  hgvsc: ENST00000508180.1:n.53G>T
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16082
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14703
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

4-48018846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018846
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48018846
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 26352
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000295461
  ensembl transcript: ENST00000295461
  gene symbol: NIPAL1
  hgvsc: ENST00000295461.5:c.-11C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000425795
  ensembl transcript: ENST00000511852
  gene symbol: NIPAL1
  hgvsc: ENST00000511852.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000508180
  gene symbol: NIPAL1
  hgvsc: ENST00000508180.1:n.58C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-8239C>T
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13823
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 92
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

4-48018850-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018850
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48018850
    reference: chr 4
allele count: 1
allele frequency: 3.604642779900512e-5
allele num: 27742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000508180
  gene symbol: NIPAL1
  hgvsc: ENST00000508180.1:n.62C>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000295461
  ensembl transcript: ENST00000295461
  gene symbol: NIPAL1
  hgvsc: ENST00000295461.5:c.-7C>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-8235C>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000425795
  ensembl transcript: ENST00000511852
  gene symbol: NIPAL1
  hgvsc: ENST00000511852.1:c.-7C>G
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 33229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 845
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

4-48018850-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018850
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48018850
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 27742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000508180
  gene symbol: NIPAL1
  hgvsc: ENST00000508180.1:n.62C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000425795
  ensembl transcript: ENST00000511852
  gene symbol: NIPAL1
  hgvsc: ENST00000511852.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000295461
  ensembl transcript: ENST00000295461
  gene symbol: NIPAL1
  hgvsc: ENST00000295461.5:c.-7C>T
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-8235C>T
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33229
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 324
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11715
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

4-48018854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018854
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48018854
    reference: chr 4
allele count: 1
allele frequency: 3.339121143315079e-5
allele num: 29948
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000295461
  ensembl transcript: ENST00000295461
  gene symbol: NIPAL1
  hgvsc: ENST00000295461.5:c.-3G>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000425795
  ensembl transcript: ENST00000511852
  gene symbol: NIPAL1
  hgvsc: ENST00000511852.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-8231G>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000508180
  gene symbol: NIPAL1
  hgvsc: ENST00000508180.1:n.66G>A
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10937
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10533
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/4-48018855-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018855
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48018855
    reference: chr 4
allele count: 1
allele frequency: 3.274823159549385e-5
allele num: 30536
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000295461
  ensembl transcript: ENST00000295461
  gene symbol: NIPAL1
  hgvsc: ENST00000295461.5:c.-2C>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000508180
  gene symbol: NIPAL1
  hgvsc: ENST00000508180.1:n.67C>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000425795
  ensembl transcript: ENST00000511852
  gene symbol: NIPAL1
  hgvsc: ENST00000511852.1:c.-2C>A
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-8230C>A
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

4-48018858-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018858
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48018858
    reference: chr 4
allele count: 9
allele frequency: 2.799377916018663e-4
allele num: 32150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-8227T>G
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000295461
  ensembl transcript: ENST00000295461
  gene symbol: NIPAL1
  hgvsc: ENST00000295461.5:c.2T>G
  hgvsp: ENSP00000295461.5:p.Met1?
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000425795
  ensembl transcript: ENST00000511852
  gene symbol: NIPAL1
  hgvsc: ENST00000511852.1:c.2T>G
  hgvsp: ENSP00000425795.1:p.Met1?
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000508180
  gene symbol: NIPAL1
  hgvsc: ENST00000508180.1:n.70T>G
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34079
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9293
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7344
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

4-48018859-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48018859
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48018859
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 32634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000508180
  gene symbol: NIPAL1
  hgvsc: ENST00000508180.1:n.71G>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000425795
  ensembl transcript: ENST00000511852
  gene symbol: NIPAL1
  hgvsc: ENST00000511852.1:c.3G>C
  hgvsp: ENSP00000425795.1:p.Met1?
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163293
  ensembl transcript: ENST00000513724
  gene symbol: NIPAL1
  hgvsc: ENST00000513724.1:n.564-8226G>C
  variant of: http://identifiers.org/hgnc/27194
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000163293
  ensembl protein: ENSP00000295461
  ensembl transcript: ENST00000295461
  gene symbol: NIPAL1
  hgvsc: ENST00000295461.5:c.3G>C
  hgvsp: ENSP00000295461.5:p.Met1?
  variant of: http://identifiers.org/hgnc/27194
canonical: true
consequence: start lost
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34023
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9032
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: G

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

GenotypeQuality
all individuals: 395
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5937
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33617
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3707
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3575
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3838
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3759
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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QD
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

MQRankSum
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SIO_000300: 6.03e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -6.56e-1

FS
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SIO_000300: 7.351e0

MQ
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SIO_000300: 5.884e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

DP
type: SiteQuality
SIO_000300: 2.856638e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

African
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allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

QD
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InbreedingCoeff
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MQRankSum
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DP
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MQ
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FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 1.68e0

BaseQRankSum
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VQSLOD
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SIO_000300: -2.242e0

ReadPosRankSum
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SIO_000300: -1.64e0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
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East Asian
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allele frequency: 1.165772907437631e-4
allele num: 8578
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.505888022166672e-5
allele num: 66406
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

MQ
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SIO_000300: 5.916e1

ClippingRankSum
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DP
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

FS
type: SiteQuality
SIO_000300: 3.376e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66410
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
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Latino
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allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.125e0

ReadPosRankSum
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SIO_000300: 1.48e0

QD
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SIO_000300: 1.625e1

MQRankSum
type: SiteQuality
SIO_000300: -2.65e-1

InbreedingCoeff
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SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 9.313000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -6.907e-1

DP
type: SiteQuality
SIO_000300: 1.804066e6

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

African
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allele count: 2
allele frequency: 2.048760499897562e-4
allele num: 9762
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.169e0

ReadPosRankSum
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SIO_000300: 1.45e0

VQSLOD
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QD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503533303262667e-5
allele num: 66510
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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DP
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SIO_000300: 1.813744e6

MQ
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SIO_000300: 5.829e1

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

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

European (Non-Finnish)
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allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

South Asian
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African
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allele frequency: 0.0e0
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Other
type: Population
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Latino
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East Asian
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DP
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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MQRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

East Asian
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South Asian
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allele num: 16476
num of homozygotes: 0

Latino
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Other
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DP
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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Latino
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num of homozygotes: 0

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

East Asian
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Latino
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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InbreedingCoeff
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ClippingRankSum
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DP
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MQRankSum
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FS
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VQSLOD
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Latino
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European (Finnish)
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Other
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European (Non-Finnish)
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South Asian
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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QD
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DP
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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Latino
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MQRankSum
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MQ
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ClippingRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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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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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.022494887525562e-4
allele num: 9780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.200768491834774e-4
allele num: 66624
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

MQ
type: SiteQuality
SIO_000300: 5.991e1

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

FS
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 1.283e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.21e-1

DP
type: SiteQuality
SIO_000300: 1.808308e6

GenotypeDepth
all individuals: 250
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

BaseQRankSum
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SIO_000300: 9.51e-1

DP
type: SiteQuality
SIO_000300: 1.805537e6

InbreedingCoeff
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SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

FS
type: SiteQuality
SIO_000300: 5.209e0

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-2

QD
type: SiteQuality
SIO_000300: 1.092e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

African
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allele count: 1
allele frequency: 1.023122570083896e-4
allele num: 9774
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

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

QD
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ClippingRankSum
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SIO_000300: -1.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 1.804807e6

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
all individuals: 8444
bin: 6.75e1
variant carriers: 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: 66492
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.803771e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.44e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
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SIO_000300: 1.81e0

FS
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

QD
type: SiteQuality
SIO_000300: 1.459e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 110
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504302304591131e-5
allele num: 66476
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.91e-1

InbreedingCoeff
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.29e-1

MQRankSum
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QD
type: SiteQuality
SIO_000300: 1.595e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

DP
type: SiteQuality
SIO_000300: 1.803304e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.023331968890708e-4
allele num: 9772
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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SIO_000300: -6.65e-1

DP
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ReadPosRankSum
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SIO_000300: 1.04e0

GenotypeDepth
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
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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European (Finnish)
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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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Latino
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allele num: 11550
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East Asian
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DP
type: SiteQuality
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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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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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SIO_000300: 6.02e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 918
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013591296748335e-5
allele num: 66366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Other
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num of homozygotes: 0

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

Latino
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allele frequency: 1.731601731601732e-4
allele num: 11550
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MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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SIO_000300: 4.1e-1

ClippingRankSum
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SIO_000300: -9.13e-1

DP
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SIO_000300: 1.799328e6

QD
type: SiteQuality
SIO_000300: 1.467e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66246
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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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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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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VQSLOD
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MQ
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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QD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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allele num: 66236
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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FS
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DP
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ClippingRankSum
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SIO_000300: -8.27e-1

QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.0790273556231e-5
allele num: 16450
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66082
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.77e1

DP
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SIO_000300: 1.791736e6

MQ
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SIO_000300: 5.89e1

MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.23e-1

InbreedingCoeff
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SIO_000300: 8.800000000000001e-3

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 66052
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9742
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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FS
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VQSLOD
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MQRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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South Asian
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East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.537231753059091e-5
allele num: 65052
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QD
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MQ
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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South Asian
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European (Non-Finnish)
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QD
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MQRankSum
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BaseQRankSum
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MQ
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FS
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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MQRankSum
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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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BaseQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.135287662643048e-5
allele num: 63790
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15716
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.899e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

InbreedingCoeff
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SIO_000300: -1.1e-3

BaseQRankSum
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QD
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FS
type: SiteQuality
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VQSLOD
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MQRankSum
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SIO_000300: -7.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.625799e6

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63212
num of homozygotes: 0

African
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allele count: 18
allele frequency: 1.903553299492386e-3
allele num: 9456
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8286
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

QD
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SIO_000300: 1.463e1

BaseQRankSum
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SIO_000300: 1.75e0

ClippingRankSum
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SIO_000300: -4.45e-1

FS
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MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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InbreedingCoeff
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SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

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

Latino
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allele frequency: 1.78858880343409e-4
allele num: 11182
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15372
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62614
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9392
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.951e0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9162
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60758
num of homozygotes: 0

Latino
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allele count: 13
allele frequency: 1.179245283018868e-3
allele num: 11024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.392e0

BaseQRankSum
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SIO_000300: -2.337e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.34e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

MQ
type: SiteQuality
SIO_000300: 5.895e1

MQRankSum
type: SiteQuality
SIO_000300: 5.22e-1

QD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 7810
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 50644
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5624
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12148
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Latino
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allele frequency: 9.84251968503937e-5
allele num: 10160
num of homozygotes: 0

MQRankSum
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SIO_000300: 1.64e0

VQSLOD
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FS
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QD
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MQ
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SIO_000300: 5.808e1

ClippingRankSum
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InbreedingCoeff
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SIO_000300: -1.08e-2

BaseQRankSum
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SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 1.132247e6

ReadPosRankSum
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SIO_000300: 1.02e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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Other
type: Population
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.969356808066485e-5
allele num: 50778
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DP
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QD
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ClippingRankSum
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-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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European (Finnish)
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allele frequency: NaN
allele num: 0
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Latino
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Other
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South Asian
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allele num: 7504
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East Asian
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ReadPosRankSum
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DP
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ClippingRankSum
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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Other
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European (Non-Finnish)
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
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allele num: 7504
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African
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East Asian
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Other
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Latino
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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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BaseQRankSum
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SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
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VQSLOD
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SIO_000300: -1.531e0

QD
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InbreedingCoeff
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SIO_000300: -3.13e-2

DP
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SIO_000300: 1.78877e5

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

MQ
type: SiteQuality
SIO_000300: 5.9e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.76e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 188
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South Asian
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allele frequency: 0.0e0
allele num: 7452
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 132
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European (Non-Finnish)
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allele frequency: 3.74251497005988e-4
allele num: 2672
num of homozygotes: 0

DP
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
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SIO_000300: -2.287e0

InbreedingCoeff
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SIO_000300: -2.78e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 54
allele frequency: 2.872340425531915e-1
allele num: 188
num of homozygotes: 10

Latino
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allele frequency: 2.173913043478261e-1
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European (Non-Finnish)
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allele frequency: 1.013412816691505e-1
allele num: 2684
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East Asian
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South Asian
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allele frequency: 1.563670411985019e-1
allele num: 7476
num of homozygotes: 89

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

Other
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allele frequency: 1.016949152542373e-1
allele num: 118
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FS
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
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SIO_000300: 3.81e-2

ClippingRankSum
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SIO_000300: -2.43e-1

VQSLOD
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SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.872e1

MQRankSum
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SIO_000300: 3.02e-1

DP
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SIO_000300: 1.77817e5

BaseQRankSum
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SIO_000300: -2.286e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

QD
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SIO_000300: 1.334e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 92
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African
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allele frequency: 0.0e0
allele num: 188
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South Asian
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allele frequency: 1.337613697164259e-4
allele num: 7476
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2690
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Other
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.63187e5

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

QD
type: SiteQuality
SIO_000300: 7.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.101e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

FS
type: SiteQuality
SIO_000300: 6.301e0

VQSLOD
type: SiteQuality
SIO_000300: -4.661e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 1.341921631776704e-4
allele num: 7452
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2676
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Latino
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allele frequency: 0.0e0
allele num: 92
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.544e0

MQ
type: SiteQuality
SIO_000300: 5.733e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.212e0

FS
type: SiteQuality
SIO_000300: 1.071e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.92e-2

QD
type: SiteQuality
SIO_000300: 1.013e1

DP
type: SiteQuality
SIO_000300: 1.60574e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 284
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 5.390835579514825e-4
allele num: 7420
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 3.74251497005988e-4
allele num: 2672
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.85e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.16e-1

QD
type: SiteQuality
SIO_000300: 1.072e1

MQ
type: SiteQuality
SIO_000300: 5.9e1

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

FS
type: SiteQuality
SIO_000300: 5.223e0

DP
type: SiteQuality
SIO_000300: 1.56557e5

VQSLOD
type: SiteQuality
SIO_000300: 3.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.11e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2644
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.16e-2

MQ
type: SiteQuality
SIO_000300: 5.77e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQRankSum
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FS
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SIO_000300: 0.0e0

VQSLOD
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DP
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.34e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 3.03030303030303e-2
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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ClippingRankSum
type: SiteQuality
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MQRankSum
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DP
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FS
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 5.319148936170213e-3
allele num: 188
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: NaN
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South Asian
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allele count: 1
allele frequency: 1.362769146906514e-4
allele num: 7338
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East Asian
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European (Non-Finnish)
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Other
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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ClippingRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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East Asian
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Other
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South Asian
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allele frequency: 1.359064963305246e-4
allele num: 7358
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European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2644
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Latino
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FS
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MQ
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MQRankSum
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ClippingRankSum
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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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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 70

East Asian
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allele count: 39
allele frequency: 2.954545454545455e-1
allele num: 132
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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African
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allele count: 66
allele frequency: 3.51063829787234e-1
allele num: 188
num of homozygotes: 12

Other
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allele frequency: 6.35593220338983e-1
allele num: 118
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South Asian
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allele frequency: 6.090174966352625e-1
allele num: 7430
num of homozygotes: 1398

European (Non-Finnish)
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allele count: 1587
allele frequency: 5.966165413533835e-1
allele num: 2660
num of homozygotes: 483

Latino
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allele frequency: 5.0e-1
allele num: 92
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QD
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BaseQRankSum
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ClippingRankSum
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DP
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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SIO_000300: 1.075e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 2.301651773625778e-3
allele num: 7386
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 130
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Other
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allele frequency: 0.0e0
allele num: 118
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele count: 34
allele frequency: 1.27915726109857e-2
allele num: 2658
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InbreedingCoeff
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SIO_000300: 1.75e-2

ClippingRankSum
type: SiteQuality
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VQSLOD
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FS
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BaseQRankSum
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MQ
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SIO_000300: 5.796e1

MQRankSum
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SIO_000300: 2.7e-1

QD
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SIO_000300: 1.358e1

ReadPosRankSum
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SIO_000300: 1.11e-1

DP
type: SiteQuality
SIO_000300: 1.60106e5

GenotypeQuality
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variant carriers: 152

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 4.571428571428571e-1
allele num: 140
num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
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Other
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allele frequency: 4.111111111111111e-1
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Latino
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allele frequency: 4.310344827586207e-1
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South Asian
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allele frequency: 4.254488680718189e-1
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European (Non-Finnish)
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allele count: 774
allele frequency: 4.24807903402854e-1
allele num: 1822
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East Asian
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allele frequency: 4.655172413793103e-1
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MQRankSum
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SIO_000300: 2.23e-1

ClippingRankSum
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SIO_000300: -6.08e-1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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MQ
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DP
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ReadPosRankSum
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SIO_000300: 9.4e-2

QD
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SIO_000300: 2.24e0

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 116
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Latino
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 1.097694840834248e-3
allele num: 1822
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South Asian
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 140
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European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.253e-1

VQSLOD
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

MQ
type: SiteQuality
SIO_000300: 5.79e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

QD
type: SiteQuality
SIO_000300: 2.24e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
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East Asian
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allele frequency: 2.586206896551724e-2
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Other
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allele frequency: 5.555555555555555e-2
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African
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allele frequency: 2.142857142857143e-2
allele num: 140
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Latino
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allele frequency: 5.172413793103448e-2
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European (Non-Finnish)
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allele count: 64
allele frequency: 3.512623490669594e-2
allele num: 1822
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South Asian
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allele count: 201
allele frequency: 3.922716627634661e-2
allele num: 5124
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.253e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

DP
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SIO_000300: 1.48557e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

QD
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.79e1

GenotypeQuality
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variant carriers: 6

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.939626783754116e-3
allele num: 1822
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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: NaN
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South Asian
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allele num: 5124
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Other
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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FS
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VQSLOD
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MQRankSum
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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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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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Other
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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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FS
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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QD
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VQSLOD
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: NaN
allele num: 0
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South Asian
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allele frequency: 5.160239000543183e-3
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East Asian
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European (Non-Finnish)
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allele num: 2644
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Latino
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Other
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African
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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ReadPosRankSum
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FS
type: SiteQuality
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ClippingRankSum
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VQSLOD
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QD
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MQRankSum
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MQ
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GenotypeQuality
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variant carriers: 0

African
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Latino
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European (Non-Finnish)
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Other
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South Asian
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European (Finnish)
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East Asian
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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ReadPosRankSum
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FS
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GenotypeQuality
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African
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Latino
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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VQSLOD
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FS
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ReadPosRankSum
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MQ
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DP
type: SiteQuality
SIO_000300: 4.52641e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.91e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 9.23e0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 3.68e0

QD
type: SiteQuality
SIO_000300: 1.122e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.66e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 4.78541e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.236e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1030
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 4.81537e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.966e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.368e0

QD
type: SiteQuality
SIO_000300: 7.0e0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8092
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.368e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.09e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.966e0

DP
type: SiteQuality
SIO_000300: 4.81537e5

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2844
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.968891514077574e-4
allele num: 10158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 914
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.274999999999999e-1

DP
type: SiteQuality
SIO_000300: 4.88942e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.246e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.56e-2

GenotypeQuality
all individuals: 305
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1041
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.741258741258741e-4
allele num: 1144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.98e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

QD
type: SiteQuality
SIO_000300: 1.631e1

MQ
type: SiteQuality
SIO_000300: 5.833e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.2907e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.344e0

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-1

GenotypeQuality
all individuals: 1533
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5179
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.251e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.69e-2

FS
type: SiteQuality
SIO_000300: 1.0473e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.154e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 5.54261e5

QD
type: SiteQuality
SIO_000300: 8.44e0

GenotypeQuality
all individuals: 159
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.359434795407713e-5
allele num: 13588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1482
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.17e-2

FS
type: SiteQuality
SIO_000300: 5.735e0

DP
type: SiteQuality
SIO_000300: 5.75011e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

QD
type: SiteQuality
SIO_000300: 8.19e0

GenotypeQuality
all individuals: 1092
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

FS
type: SiteQuality
SIO_000300: 5.735e0

VQSLOD
type: SiteQuality
SIO_000300: 3.37e-1

DP
type: SiteQuality
SIO_000300: 5.75011e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.82e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.17e-2

QD
type: SiteQuality
SIO_000300: 8.19e0

GenotypeQuality
all individuals: 1869
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.706908115358819e-5
allele num: 14910
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.16e-1

DP
type: SiteQuality
SIO_000300: 5.94404e5

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.97e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.482e1

GenotypeQuality
all individuals: 1544
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.535093451836362e-5
allele num: 15302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1722
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.243e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

DP
type: SiteQuality
SIO_000300: 6.00597e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.18e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 714
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 340
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1087
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 9
allele frequency: 4.495504495504496e-3
allele num: 2002
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8702
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

QD
type: SiteQuality
SIO_000300: 1.48e1

MQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

DP
type: SiteQuality
SIO_000300: 6.17613e5

GenotypeQuality
all individuals: 339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2018
num of homozygotes: 0