1-182491234-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182491234
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182491234
    reference: chr 1
allele count: 1
allele frequency: 4.473872584108804e-5
allele num: 22352
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.1921A>G
  hgvsp: ENSP00000457748.1:p.Met641Val
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*198A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.162A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2026A>G
  hgvsp: ENSP00000457491.1:p.Met676Val
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.271A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2026A>G
  hgvsp: ENSP00000455349.1:p.Met676Val
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met641Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-182491283-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182491283
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182491283
    reference: chr 1
allele count: 1
allele frequency: 4.47427293064877e-5
allele num: 22350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.172+39A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.281+39A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2036+39A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*208+39A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.1931+39A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2036+39A>G
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5947
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

1-182491288-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182491288
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182491288
    reference: chr 1
allele count: 6
allele frequency: 2.685284640171858e-4
allele num: 22344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*208+44C>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2036+44C>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.1931+44C>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2036+44C>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.281+44C>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.172+44C>G
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-182496671-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182496671
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182496671
    reference: chr 1
allele count: 3
allele frequency: 1.914730661220322e-4
allele num: 15668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*209-43A>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.282-43A>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.1932-43A>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2037-43A>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2037-43A>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.173-43A>T
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

1-182496674-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182496674
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182496674
    reference: chr 1
allele count: 1
allele frequency: 6.348400203148806e-5
allele num: 15752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2037-40A>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.1932-40A>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.282-40A>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*209-40A>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2037-40A>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.173-40A>T
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-182496756-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182496756
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182496756
    reference: chr 1
allele count: 2
allele frequency: 8.742022904100009e-5
allele num: 22878
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.1974C>T
  hgvsp: ENST00000294854.8:c.1974C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2079C>T
  hgvsp: ENST00000542961.1:c.2079C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2079C>T
  hgvsp: ENST00000443996.2:c.2079C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.324C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.215C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*251C>T
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe658Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

1-182496771-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182496771
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182496771
    reference: chr 1
allele count: 1
allele frequency: 4.351610095735422e-5
allele num: 22980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*266C>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.1989C>G
  hgvsp: ENST00000294854.8:c.1989C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.230C>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2094C>G
  hgvsp: ENST00000443996.2:c.2094C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2094C>G
  hgvsp: ENST00000542961.1:c.2094C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.339C>G
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu663Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum

1-182496777-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182496777
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182496777
    reference: chr 1
allele count: 2
allele frequency: 8.691117677733357e-5
allele num: 23012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2100A>G
  hgvsp: ENST00000443996.2:c.2100A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.345A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.1995A>G
  hgvsp: ENST00000294854.8:c.1995A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2100A>G
  hgvsp: ENST00000542961.1:c.2100A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*272A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.236A>G
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu665Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-182496779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182496779
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182496779
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 23004
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.347G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*274G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2102G>A
  hgvsp: ENSP00000455349.1:p.Arg701Gln
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2102G>A
  hgvsp: ENSP00000457491.1:p.Arg701Gln
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.238G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.1997G>A
  hgvsp: ENSP00000457748.1:p.Arg666Gln
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg666Gln
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-182496791-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182496791
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182496791
    reference: chr 1
allele count: 92
allele frequency: 3.996177569281557e-3
allele num: 23022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2114T>G
  hgvsp: ENSP00000455349.1:p.Ile705Ser
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.250T>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.359T>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2114T>G
  hgvsp: ENSP00000457491.1:p.Ile705Ser
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*286T>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2009T>G
  hgvsp: ENSP00000457748.1:p.Ile670Ser
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile670Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

1-182496796-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182496796
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182496796
    reference: chr 1
allele count: 1
allele frequency: 4.348582362149939e-5
allele num: 22996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2119T>C
  hgvsp: ENST00000443996.2:c.2119T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2014T>C
  hgvsp: ENST00000294854.8:c.2014T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*291T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.255T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.364T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2119T>C
  hgvsp: ENST00000542961.1:c.2119T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu672Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

1-182496829-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182496829
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182496829
    reference: chr 1
allele count: 7867
allele frequency: 3.436271512186599e-1
allele num: 22894
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2047A>G
  hgvsp: ENSP00000457748.1:p.Ile683Val
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.397A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2152A>G
  hgvsp: ENSP00000457491.1:p.Ile718Val
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2152A>G
  hgvsp: ENSP00000455349.1:p.Ile718Val
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*324A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.288A>G
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 251
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 308
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 370
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 354
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 2.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.25e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 9.75e1
  variant carriers: 1795
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 2.5e0
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 319
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 234
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 419
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 249
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 433
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 2.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 371
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 390
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 258
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 433
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 6.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.5e0
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 6.75e1
  variant carriers: 16
hgvs: p.Ile683Val
num of homozygotes: 1416
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-182496832-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182496832
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182496832
    reference: chr 1
allele count: 5
allele frequency: 2.209847078582162e-4
allele num: 22626
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2155G>C
  hgvsp: ENSP00000455349.1:p.Glu719Gln
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.400G>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2050G>C
  hgvsp: ENSP00000457748.1:p.Glu684Gln
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.291G>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2155G>C
  hgvsp: ENSP00000457491.1:p.Glu719Gln
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*327G>C
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu684Gln
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

1-182496834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182496834
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182496834
    reference: chr 1
allele count: 2
allele frequency: 8.844078889183692e-5
allele num: 22614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*329G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2157G>A
  hgvsp: ENST00000542961.1:c.2157G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2052G>A
  hgvsp: ENST00000294854.8:c.2052G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2157G>A
  hgvsp: ENST00000443996.2:c.2157G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.402G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.293G>A
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6990
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu684Glu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

1-182496879-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182496879
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182496879
    reference: chr 1
allele count: 1
allele frequency: 4.653760238272524e-5
allele num: 21488
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2097G>A
  hgvsp: ENST00000294854.8:c.2097G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.447G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.338G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*374G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2202G>A
  hgvsp: ENST00000542961.1:c.2202G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2202G>A
  hgvsp: ENST00000443996.2:c.2202G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys699Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-182496888-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182496888
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182496888
    reference: chr 1
allele count: 1
allele frequency: 4.793404275716614e-5
allele num: 20862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.456C>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.347C>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2106C>G
  hgvsp: ENSP00000457748.1:p.Phe702Leu
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*383C>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2211C>G
  hgvsp: ENSP00000455349.1:p.Phe737Leu
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2211C>G
  hgvsp: ENSP00000457491.1:p.Phe737Leu
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe702Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS

1-182496897-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182496897
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182496897
    reference: chr 1
allele count: 1
allele frequency: 4.919807143559972e-5
allele num: 20326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2220A>G
  hgvsp: ENST00000443996.2:c.2220A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.356A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2115A>G
  hgvsp: ENST00000294854.8:c.2115A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*392A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2220A>G
  hgvsp: ENST00000542961.1:c.2220A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.465A>G
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln705Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-182496949-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182496949
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182496949
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 14524
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2230+42T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*402+42T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2230+42T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.366+42T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2125+42T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.475+42T>C
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

1-182499368-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499368
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499368
    reference: chr 1
allele count: 1
allele frequency: 4.47267197423741e-5
allele num: 22358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.367-11G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2231-11G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2231-11G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*403-11G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2126-11G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.476-11G>A
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

1-182499372-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499372
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499372
    reference: chr 1
allele count: 88
allele frequency: 3.929273084479371e-3
allele num: 22396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.476-7T>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2231-7T>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2126-7T>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.367-7T>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*403-7T>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2231-7T>G
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5811
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 9.75e1
  variant carriers: 88
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
hgvs: c.2126-7T>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-182499375-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499375
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499375
    reference: chr 1
allele count: 1
allele frequency: 4.457917261055635e-5
allele num: 22432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*403-4C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.476-4C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2126-4C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2231-4C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2231-4C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.367-4C>T
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2126-4C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

1-182499386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499386
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499386
    reference: chr 1
allele count: 31
allele frequency: 1.378267828561266e-3
allele num: 22492
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.483G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.374G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2133G>A
  hgvsp: ENSP00000457748.1:p.Met711Ile
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2238G>A
  hgvsp: ENSP00000457491.1:p.Met746Ile
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2238G>A
  hgvsp: ENSP00000455349.1:p.Met746Ile
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*410G>A
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met711Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

1-182499387-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499387
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499387
    reference: chr 1
allele count: 30
allele frequency: 1.333333333333333e-3
allele num: 22500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.375C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2134C>T
  hgvsp: ENST00000294854.8:c.2134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2239C>T
  hgvsp: ENST00000443996.2:c.2239C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*411C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.484C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2239C>T
  hgvsp: ENST00000542961.1:c.2239C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu712Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

1-182499392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499392
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499392
    reference: chr 1
allele count: 1
allele frequency: 4.440891731059596e-5
allele num: 22518
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2139G>A
  hgvsp: ENST00000294854.8:c.2139G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2244G>A
  hgvsp: ENST00000542961.1:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.489G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*416G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2244G>A
  hgvsp: ENST00000443996.2:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.380G>A
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln713Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

1-182499419-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499419
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499419
    reference: chr 1
allele count: 1
allele frequency: 4.444049417829526e-5
allele num: 22502
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2271C>G
  hgvsp: ENSP00000457491.1:p.Ile757Met
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*443C>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2271C>G
  hgvsp: ENSP00000455349.1:p.Ile757Met
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.516C>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2166C>G
  hgvsp: ENSP00000457748.1:p.Ile722Met
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.407C>G
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile722Met
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-182499420-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499420
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499420
    reference: chr 1
allele count: 1
allele frequency: 4.443654461429079e-5
allele num: 22504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.408G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2272G>A
  hgvsp: ENSP00000455349.1:p.Ala758Thr
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2167G>A
  hgvsp: ENSP00000457748.1:p.Ala723Thr
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.517G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*444G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2272G>A
  hgvsp: ENSP00000457491.1:p.Ala758Thr
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala723Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/1-182499429-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499429
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499429
    reference: chr 1
allele count: 21
allele frequency: 9.335822886102961e-4
allele num: 22494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*453C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.417C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2176C>A
  hgvsp: ENSP00000457748.1:p.Arg726Ser
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2281C>A
  hgvsp: ENSP00000457491.1:p.Arg761Ser
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.526C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2281C>A
  hgvsp: ENSP00000455349.1:p.Arg761Ser
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5992
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg726Ser
num of homozygotes: 1
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-182499429-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499429
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499429
    reference: chr 1
allele count: 6
allele frequency: 2.667377967457989e-4
allele num: 22494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2281C>T
  hgvsp: ENSP00000457491.1:p.Arg761Cys
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*453C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2176C>T
  hgvsp: ENSP00000457748.1:p.Arg726Cys
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.417C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.526C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2281C>T
  hgvsp: ENSP00000455349.1:p.Arg761Cys
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5992
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg726Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-182499430-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499430
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499430
    reference: chr 1
allele count: 3
allele frequency: 1.333807576027032e-4
allele num: 22492
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.418G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2282G>A
  hgvsp: ENSP00000455349.1:p.Arg761His
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2282G>A
  hgvsp: ENSP00000457491.1:p.Arg761His
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*454G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2177G>A
  hgvsp: ENSP00000457748.1:p.Arg726His
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.527G>A
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg726His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

1-182499437-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499437
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499437
    reference: chr 1
allele count: 3
allele frequency: 1.334757074212493e-4
allele num: 22476
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2184C>T
  hgvsp: ENST00000294854.8:c.2184C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2289C>T
  hgvsp: ENST00000542961.1:c.2289C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*461C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.534C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2289C>T
  hgvsp: ENST00000443996.2:c.2289C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.425C>T
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val728Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-182499442-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499442
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499442
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 22466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2294C>T
  hgvsp: ENSP00000457491.1:p.Thr765Ile
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.539C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2189C>T
  hgvsp: ENSP00000457748.1:p.Thr730Ile
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2294C>T
  hgvsp: ENSP00000455349.1:p.Thr765Ile
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.430C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*466C>T
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr730Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-182499457-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499457
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499457
    reference: chr 1
allele count: 2
allele frequency: 8.927774305865548e-5
allele num: 22402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.554C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.445C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2309C>T
  hgvsp: ENSP00000455349.1:p.Thr770Met
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*481C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2204C>T
  hgvsp: ENSP00000457748.1:p.Thr735Met
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2309C>T
  hgvsp: ENSP00000457491.1:p.Thr770Met
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr735Met
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-182499464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499464
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499464
    reference: chr 1
allele count: 16
allele frequency: 7.150518412584912e-4
allele num: 22376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2316G>A
  hgvsp: ENST00000542961.1:c.2316G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2316G>A
  hgvsp: ENST00000443996.2:c.2316G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2211G>A
  hgvsp: ENST00000294854.8:c.2211G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.561G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.452G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*488G>A
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln737Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-182499504-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499504
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499504
    reference: chr 1
allele count: 3
allele frequency: 1.34855704396296e-4
allele num: 22246
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2243+8T>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.593+8T>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2348+8T>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*520+8T>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2348+8T>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.484+8T>A
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
hgvs: c.2243+8T>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-182499510-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499510
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499510
    reference: chr 1
allele count: 86
allele frequency: 3.871781019268864e-3
allele num: 22212
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2243+14A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.593+14A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2348+14A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2348+14A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*520+14A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.484+14A>G
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5501
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 6.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

1-182499528-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499528
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499528
    reference: chr 1
allele count: 1
allele frequency: 4.532269760696157e-5
allele num: 22064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.484+32C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2243+32C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*520+32C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2348+32C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.593+32C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2348+32C>T
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-182499891-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499891
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499891
    reference: chr 1
allele count: 1
allele frequency: 5.063291139240507e-5
allele num: 19750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*521-34G>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2349-34G>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2244-34G>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.594-34G>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.484+395G>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2349-34G>T
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-182499933-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499933
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499933
    reference: chr 1
allele count: 1
allele frequency: 4.554148829583751e-5
allele num: 21958
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.602A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2357A>G
  hgvsp: ENSP00000457491.1:p.Asp786Gly
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.484+437A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2357A>G
  hgvsp: ENSP00000455349.1:p.Asp786Gly
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*529A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2252A>G
  hgvsp: ENSP00000457748.1:p.Asp751Gly
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp751Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

1-182499943-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499943
    reference: chr 1
allele count: 104
allele frequency: 4.692293809781628e-3
allele num: 22164
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2262C>G
  hgvsp: ENSP00000457748.1:p.Asp754Glu
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2367C>G
  hgvsp: ENSP00000457491.1:p.Asp789Glu
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.612C>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*539C>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2367C>G
  hgvsp: ENSP00000455349.1:p.Asp789Glu
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.484+447C>G
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
hgvs: p.Asp754Glu
num of homozygotes: 4
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-182499953-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499953
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499953
    reference: chr 1
allele count: 1
allele frequency: 4.487927475092002e-5
allele num: 22282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2377C>A
  hgvsp: ENSP00000455349.1:p.Pro793Thr
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.622C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*549C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.484+457C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2272C>A
  hgvsp: ENSP00000457748.1:p.Pro758Thr
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2377C>A
  hgvsp: ENSP00000457491.1:p.Pro793Thr
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6196
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro758Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-182499956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499956
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499956
    reference: chr 1
allele count: 85
allele frequency: 3.810292271830734e-3
allele num: 22308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2380C>T
  hgvsp: ENSP00000457491.1:p.His794Tyr
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*552C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2275C>T
  hgvsp: ENSP00000457748.1:p.His759Tyr
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2380C>T
  hgvsp: ENSP00000455349.1:p.His794Tyr
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.484+460C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.625C>T
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His759Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-182499957-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182499957
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182499957
    reference: chr 1
allele count: 85
allele frequency: 3.810975609756097e-3
allele num: 22304
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2276A>G
  hgvsp: ENSP00000457748.1:p.His759Arg
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2381A>G
  hgvsp: ENSP00000455349.1:p.His794Arg
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.626A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*553A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2381A>G
  hgvsp: ENSP00000457491.1:p.His794Arg
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.484+461A>G
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 7.5e0
  variant carriers: 1
hgvs: p.His759Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

1-182500025-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182500025
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182500025
    reference: chr 1
allele count: 1
allele frequency: 4.476676515355e-5
allele num: 22338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2449A>T
  hgvsp: ENSP00000455349.1:p.Thr817Ser
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2344A>T
  hgvsp: ENSP00000457748.1:p.Thr782Ser
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2449A>T
  hgvsp: ENSP00000457491.1:p.Thr817Ser
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.694A>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*621A>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.484+529A>T
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr782Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

1-182500028-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182500028
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182500028
    reference: chr 1
allele count: 1
allele frequency: 4.477077363896848e-5
allele num: 22336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2452T>G
  hgvsp: ENSP00000457491.1:p.Tyr818Asp
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.484+532T>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*624T>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2347T>G
  hgvsp: ENSP00000457748.1:p.Tyr783Asp
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.697T>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2452T>G
  hgvsp: ENSP00000455349.1:p.Tyr818Asp
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr783Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-182500046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182500046
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182500046
    reference: chr 1
allele count: 2
allele frequency: 8.976660682226212e-5
allele num: 22280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*641+1G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2364+1G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.714+1G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2469+1G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2469+1G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.484+550G>A
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.25e1
  variant carriers: 0
hgvs: c.2364+1G>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

1-182500051-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182500051
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182500051
    reference: chr 1
allele count: 1
allele frequency: 4.491152429713464e-5
allele num: 22266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2469+6T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2469+6T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.484+555T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2364+6T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*641+6T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.714+6T>C
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2364+6T>C
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

1-182500069-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182500069
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182500069
    reference: chr 1
allele count: 1
allele frequency: 4.497211728728189e-5
allele num: 22236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2469+24A>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2364+24A>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.484+573A>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2469+24A>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*641+24A>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.714+24A>T
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/1-182500073-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182500073
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182500073
    reference: chr 1
allele count: 1
allele frequency: 4.49842555105713e-5
allele num: 22230
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2364+28C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2469+28C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2469+28C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.484+577C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*641+28C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.714+28C>A
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5717
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-182501811-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182501811
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182501811
    reference: chr 1
allele count: 1
allele frequency: 4.40063369125154e-5
allele num: 22724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.729G>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.499G>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2379G>T
  hgvsp: ENSP00000457748.1:p.Met793Ile
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*656G>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2484G>T
  hgvsp: ENSP00000455349.1:p.Met828Ile
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2484G>T
  hgvsp: ENSP00000457491.1:p.Met828Ile
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met793Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-182501823-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182501823
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182501823
    reference: chr 1
allele count: 4
allele frequency: 1.757160428747145e-4
allele num: 22764
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2391C>A
  hgvsp: ENSP00000457748.1:p.Ser797Arg
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.511C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2496C>A
  hgvsp: ENSP00000457491.1:p.Ser832Arg
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2496C>A
  hgvsp: ENSP00000455349.1:p.Ser832Arg
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.741C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*668C>A
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser797Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-182501848-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182501848
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182501848
    reference: chr 1
allele count: 3
allele frequency: 1.320538779822167e-4
allele num: 22718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2521C>T
  hgvsp: ENSP00000455349.1:p.Arg841Cys
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2416C>T
  hgvsp: ENSP00000457748.1:p.Arg806Cys
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.766C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*693C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.536C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2521C>T
  hgvsp: ENSP00000457491.1:p.Arg841Cys
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg806Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum

1-182501849-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182501849
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182501849
    reference: chr 1
allele count: 2
allele frequency: 8.802816901408451e-5
allele num: 22720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.537G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2417G>A
  hgvsp: ENSP00000457748.1:p.Arg806His
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2522G>A
  hgvsp: ENSP00000457491.1:p.Arg841His
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2522G>A
  hgvsp: ENSP00000455349.1:p.Arg841His
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.767G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*694G>A
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg806His
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-182501881-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182501881
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182501881
    reference: chr 1
allele count: 1
allele frequency: 4.431052818149592e-5
allele num: 22568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.799G>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.569G>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2449G>C
  hgvsp: ENSP00000457748.1:p.Glu817Gln
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*726G>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2554G>C
  hgvsp: ENSP00000457491.1:p.Glu852Gln
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2554G>C
  hgvsp: ENSP00000455349.1:p.Glu852Gln
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu817Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-182501891-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182501891
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182501891
    reference: chr 1
allele count: 1
allele frequency: 4.438526409232135e-5
allele num: 22530
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2459A>G
  hgvsp: ENSP00000457748.1:p.Asp820Gly
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*736A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2564A>G
  hgvsp: ENSP00000457491.1:p.Asp855Gly
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2564A>G
  hgvsp: ENSP00000455349.1:p.Asp855Gly
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.579A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.809A>G
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp820Gly
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-182501894-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182501894
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182501894
    reference: chr 1
allele count: 2
allele frequency: 8.877840909090909e-5
allele num: 22528
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2567A>G
  hgvsp: ENSP00000455349.1:p.Tyr856Cys
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2462A>G
  hgvsp: ENSP00000457748.1:p.Tyr821Cys
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.812A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.582A>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2567A>G
  hgvsp: ENSP00000457491.1:p.Tyr856Cys
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*739A>G
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr821Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

1-182501901-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182501901
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182501901
    reference: chr 1
allele count: 83
allele frequency: 3.691842362779112e-3
allele num: 22482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*746C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.589C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2574C>T
  hgvsp: ENST00000443996.2:c.2574C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2574C>T
  hgvsp: ENST00000542961.1:c.2574C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2469C>T
  hgvsp: ENST00000294854.8:c.2469C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.819C>T
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His823His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

1-182501902-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182501902
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182501902
    reference: chr 1
allele count: 1
allele frequency: 4.4499822000712e-5
allele num: 22472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*747C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2575C>T
  hgvsp: ENSP00000455349.1:p.Gln859Ter
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2470C>T
  hgvsp: ENSP00000457748.1:p.Gln824Ter
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2575C>T
  hgvsp: ENSP00000457491.1:p.Gln859Ter
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000456971
  gene symbol: RGSL1
  hgvsc: ENST00000456971.2:n.590C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.820C>T
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln824Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS

http://identifiers.org/exac.variant/1-182501933-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182501933
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182501933
    reference: chr 1
allele count: 13544
allele frequency: 6.086643897177781e-1
allele num: 22252
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2494+7C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2599+7C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*771+7C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2599+7C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.844+7C>A
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 826
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.5e0
  variant carriers: 321
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 2.75e1
  variant carriers: 611
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 374
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 9.75e1
  variant carriers: 2251
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 2.25e1
  variant carriers: 445
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 2.5e0
  variant carriers: 360
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 3.25e1
  variant carriers: 871
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 247
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 553
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 1040
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 1098
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.75e1
  variant carriers: 99
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.25e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.25e1
  variant carriers: 109
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 120
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 139
hgvs: c.2494+7C>A
num of homozygotes: 4199
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

1-182501943-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182501943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182501943
    reference: chr 1
allele count: 3
allele frequency: 1.367116296026249e-4
allele num: 21944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2599+17T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.844+17T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2599+17T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2494+17T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*771+17T>C
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

1-182501953-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182501953
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182501953
    reference: chr 1
allele count: 2
allele frequency: 9.158347834050737e-5
allele num: 21838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2599+27C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*771+27C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2494+27C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2599+27C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.844+27C>T
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/1-182501955-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182501955
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182501955
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 21818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2599+29C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2599+29C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.844+29C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2494+29C>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*771+29C>A
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

1-182509335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182509335
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182509335
    reference: chr 1
allele count: 1
allele frequency: 6.100536847242558e-5
allele num: 16392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*772-47G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2495-47G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2600-47G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2600-47G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.845-47G>A
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD

1-182509367-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182509367
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182509367
    reference: chr 1
allele count: 1
allele frequency: 5.436555398499511e-5
allele num: 18394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2600-15T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*772-15T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2600-15T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2495-15T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.845-15T>C
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-182509369-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182509369
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182509368
    reference: chr 1
allele count: 1
allele frequency: 5.363080553469913e-5
allele num: 18646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.845-10delT
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2600-10delT
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2495-10delT
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2600-10delT
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*772-10delT
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  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: CT
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

1-182509370-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182509370
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182509370
    reference: chr 1
allele count: 1
allele frequency: 5.305039787798409e-5
allele num: 18850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2600-12T>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.845-12T>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2600-12T>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2495-12T>G
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*772-12T>G
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-182509374-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182509374
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182509374
    reference: chr 1
allele count: 13
allele frequency: 6.675567423230974e-4
allele num: 19474
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2495-8T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2600-8T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*772-8T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2600-8T>C
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.845-8T>C
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
hgvs: c.2495-8T>C
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

1-182509379-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182509379
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182509379
    reference: chr 1
allele count: 1
allele frequency: 4.95589255624938e-5
allele num: 20178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2600-3C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*772-3C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.845-3C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2495-3C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2600-3C>T
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 6.25e1
  variant carriers: 0
hgvs: c.2495-3C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

1-182509389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182509389
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182509389
    reference: chr 1
allele count: 356
allele frequency: 1.666198633342694e-2
allele num: 21366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2502C>T
  hgvsp: ENST00000294854.8:c.2502C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2607C>T
  hgvsp: ENST00000542961.1:c.2607C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2607C>T
  hgvsp: ENST00000443996.2:c.2607C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*779C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.852C>T
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4610
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 9.75e1
  variant carriers: 326
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Thr834Thr
num of homozygotes: 23
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-182509406-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182509406
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182509406
    reference: chr 1
allele count: 1
allele frequency: 4.44247001332741e-5
allele num: 22510
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2519C>T
  hgvsp: ENSP00000457748.1:p.Ser840Leu
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2624C>T
  hgvsp: ENSP00000455349.1:p.Ser875Leu
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*796C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.869C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2624C>T
  hgvsp: ENSP00000457491.1:p.Ser875Leu
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser840Leu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

1-182509412-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182509412
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182509412
    reference: chr 1
allele count: 1
allele frequency: 4.386349679796474e-5
allele num: 22798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2630G>A
  hgvsp: ENSP00000455349.1:p.Arg877His
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.875G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*802G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2525G>A
  hgvsp: ENSP00000457748.1:p.Arg842His
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2630G>A
  hgvsp: ENSP00000457491.1:p.Arg877His
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg842His
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD

1-182509425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182509425
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182509425
    reference: chr 1
allele count: 2
allele frequency: 8.688097306689835e-5
allele num: 23020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*815C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.888C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2643C>T
  hgvsp: ENST00000542961.1:c.2643C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2643C>T
  hgvsp: ENST00000443996.2:c.2643C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2538C>T
  hgvsp: ENST00000294854.8:c.2538C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro846Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-182509438-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182509438
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182509438
    reference: chr 1
allele count: 1
allele frequency: 4.338394793926247e-5
allele num: 23050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*828C>T
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2656C>T
  hgvsp: ENSP00000457491.1:p.Arg886Trp
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2551C>T
  hgvsp: ENSP00000457748.1:p.Arg851Trp
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2656C>T
  hgvsp: ENSP00000455349.1:p.Arg886Trp
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.901C>T
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6290
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg851Trp
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

1-182509439-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182509439
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182509439
    reference: chr 1
allele count: 1
allele frequency: 4.337265787647467e-5
allele num: 23056
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457748
  ensembl transcript: ENST00000294854
  gene symbol: RGSL1
  hgvsc: ENST00000294854.8:c.2552G>A
  hgvsp: ENSP00000457748.1:p.Arg851Gln
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000454954
  ensembl transcript: ENST00000415960
  gene symbol: RGSL1
  hgvsc: ENST00000415960.2:c.*829G>A
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000457491
  ensembl transcript: ENST00000443996
  gene symbol: RGSL1
  hgvsc: ENST00000443996.2:c.2657G>A
  hgvsp: ENSP00000457491.1:p.Arg886Gln
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121446
  ensembl protein: ENSP00000455349
  ensembl transcript: ENST00000542961
  gene symbol: RGSL1
  hgvsc: ENST00000542961.1:c.2657G>A
  hgvsp: ENSP00000455349.1:p.Arg886Gln
  variant of: http://identifiers.org/hgnc/18636
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121446
  ensembl transcript: ENST00000436031
  gene symbol: RGSL1
  hgvsc: ENST00000436031.1:n.902G>A
  variant of: http://identifiers.org/hgnc/18636
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg851Gln
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5945
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 517
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.63901018922853e-4
allele num: 2748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.704e0

FS
type: SiteQuality
SIO_000300: 2.0033e1

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 5.65917e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.04e0

QD
type: SiteQuality
SIO_000300: 1.545e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

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

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.142334932602239e-4
allele num: 8754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.719e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

FS
type: SiteQuality
SIO_000300: 3.809e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

DP
type: SiteQuality
SIO_000300: 5.6542e5

VQSLOD
type: SiteQuality
SIO_000300: 7.54e-1

GenotypeQuality
all individuals: 842
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5952
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 667
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 3.694581280788177e-3
allele num: 1624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8752
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.65665e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.513e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 761
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.151674508718517e-4
allele num: 7226
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.42e-2

FS
type: SiteQuality
SIO_000300: 1.404e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 1.691e1

VQSLOD
type: SiteQuality
SIO_000300: -4.24e-1

DP
type: SiteQuality
SIO_000300: 2.62875e5

BaseQRankSum
type: SiteQuality
SIO_000300: -8.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1886
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 269
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 269
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.380071763731714e-4
allele num: 7246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2506
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.44e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.96e-1

DP
type: SiteQuality
SIO_000300: 2.64729e5

QD
type: SiteQuality
SIO_000300: 1.219e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 74
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6389
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 486
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.547770700636942e-4
allele num: 7850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

QD
type: SiteQuality
SIO_000300: 1.417e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.652e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 3.53218e5

MQ
type: SiteQuality
SIO_000300: 6.02e1

GenotypeQuality
all individuals: 71
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6367
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1636
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.52112676056338e-4
allele num: 2840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.336e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.624e0

VQSLOD
type: SiteQuality
SIO_000300: -2.347e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.471e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

FS
type: SiteQuality
SIO_000300: 1.6078e1

DP
type: SiteQuality
SIO_000300: 3.55184e5

MQRankSum
type: SiteQuality
SIO_000300: 8.83e-1

GenotypeQuality
all individuals: 610
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.530364372469636e-4
allele num: 7904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

VQSLOD
type: SiteQuality
SIO_000300: 8.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.344e0

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 3.55356e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

QD
type: SiteQuality
SIO_000300: 1.333e1

GenotypeQuality
all individuals: 762
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.93e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 4.751e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.59e-1

QD
type: SiteQuality
SIO_000300: 1.369e1

DP
type: SiteQuality
SIO_000300: 3.55516e5

GenotypeQuality
all individuals: 6330
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2001
bin: 9.75e1
variant carriers: 88

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1137
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 59
allele frequency: 2.070175438596491e-2
allele num: 2850
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263902932254803e-4
allele num: 7912
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.380952380952381e-3
allele num: 420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 3.332616641582455e-3
allele num: 9302
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 3.5941e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

FS
type: SiteQuality
SIO_000300: 1.773e0

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

GenotypeQuality
all individuals: 812
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6334
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2834
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.380952380952381e-3
allele num: 420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.46e-1

QD
type: SiteQuality
SIO_000300: 1.01e1

DP
type: SiteQuality
SIO_000300: 3.55644e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

VQSLOD
type: SiteQuality
SIO_000300: -2.156e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

GenotypeQuality
all individuals: 184
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 23

GenotypeQuality
all individuals: 84
bin: 8.75e1
variant carriers: 20

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 13

GenotypeQuality
all individuals: 247
bin: 2.25e1
variant carriers: 43

GenotypeQuality
all individuals: 6768
bin: 9.75e1
variant carriers: 6343

GenotypeQuality
all individuals: 146
bin: 8.25e1
variant carriers: 24

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 16

GenotypeQuality
all individuals: 164
bin: 7.75e1
variant carriers: 20

Other
type: Population
allele count: 92
allele frequency: 3.709677419354839e-1
allele num: 248
num of homozygotes: 15

South Asian
type: Population
allele count: 2482
allele frequency: 3.1378002528445e-1
allele num: 7910
num of homozygotes: 408

European (Finnish)
type: Population
allele count: 698
allele frequency: 4.287469287469288e-1
allele num: 1628
num of homozygotes: 150

East Asian
type: Population
allele count: 273
allele frequency: 4.187116564417178e-1
allele num: 652
num of homozygotes: 62

Latino
type: Population
allele count: 103
allele frequency: 2.452380952380952e-1
allele num: 420
num of homozygotes: 12

African
type: Population
allele count: 601
allele frequency: 2.126680820948337e-1
allele num: 2826
num of homozygotes: 70

European (Non-Finnish)
type: Population
allele count: 3618
allele frequency: 3.928338762214983e-1
allele num: 9210
num of homozygotes: 699

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.41e-2

DP
type: SiteQuality
SIO_000300: 6.73679e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

QD
type: SiteQuality
SIO_000300: 1.861e1

VQSLOD
type: SiteQuality
SIO_000300: 5.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.68e-1

GenotypeQuality
all individuals: 1239
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 999
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2784
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.058168942842691e-4
allele num: 7908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.112099644128114e-4
allele num: 8992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.612e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 2.492e0

DP
type: SiteQuality
SIO_000300: 3.41126e5

VQSLOD
type: SiteQuality
SIO_000300: 8.85e-1

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1235
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2784
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.076923076923077e-3
allele num: 650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8980
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

DP
type: SiteQuality
SIO_000300: 3.40784e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.816e0

VQSLOD
type: SiteQuality
SIO_000300: 7.83e-1

QD
type: SiteQuality
SIO_000300: 1.133e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.32e-1

FS
type: SiteQuality
SIO_000300: 5.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 142
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.700962250185048e-4
allele num: 2702
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.19757e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.613e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

MQ
type: SiteQuality
SIO_000300: 5.997e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

FS
type: SiteQuality
SIO_000300: 3.549e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

QD
type: SiteQuality
SIO_000300: 1.586e1

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5238
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.428571428571429e-4
allele num: 7000
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.06729e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e-1

QD
type: SiteQuality
SIO_000300: 1.309e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 282
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4698
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2634
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.499250374812594e-4
allele num: 6670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-2

DP
type: SiteQuality
SIO_000300: 2.95181e5

QD
type: SiteQuality
SIO_000300: 1.027e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

GenotypeQuality
all individuals: 405
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.93e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.782e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 2.19166e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.54e-2

GenotypeQuality
all individuals: 553
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2686
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.267105930055753e-4
allele num: 7892
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 1.334e0

DP
type: SiteQuality
SIO_000300: 3.47844e5

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 1.145e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

GenotypeQuality
all individuals: 524
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 509
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 388
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.25e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

African
type: Population
allele count: 56
allele frequency: 2.080237741456166e-2
allele num: 2692
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.265822784810127e-4
allele num: 7900
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.450980392156863e-3
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 3.379139445821131e-3
allele num: 8878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 3.50651e5

QD
type: SiteQuality
SIO_000300: 1.625e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1745
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5859
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8884
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.266143327424664e-4
allele num: 7898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.698e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 5.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 3.49962e5

VQSLOD
type: SiteQuality
SIO_000300: -2.788e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.796e0

GenotypeQuality
all individuals: 1052
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 390
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 516
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 3.371544167228591e-3
allele num: 8898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.0e-3
allele num: 250
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

FS
type: SiteQuality
SIO_000300: 5.93e-1

QD
type: SiteQuality
SIO_000300: 2.026e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.536e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 3.51811e5

GenotypeQuality
all individuals: 621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1400
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 9.75e1
variant carriers: 31

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 3.257694900022467e-3
allele num: 8902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.0e-3
allele num: 250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.996e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

DP
type: SiteQuality
SIO_000300: 3.52e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.651e0

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
all individuals: 437
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1405
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.61794500723589e-4
allele num: 2764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.87e-1

FS
type: SiteQuality
SIO_000300: 8.120000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.51264e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.94e-1

MQ
type: SiteQuality
SIO_000300: 5.891e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.726e0

QD
type: SiteQuality
SIO_000300: 1.129e1

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5988
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263902932254803e-4
allele num: 7912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQ
type: SiteQuality
SIO_000300: 5.811e1

FS
type: SiteQuality
SIO_000300: 2.617e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 1.423e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.064e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

DP
type: SiteQuality
SIO_000300: 3.50971e5

GenotypeQuality
all individuals: 389
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 265
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1100
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.610108303249097e-4
allele num: 2770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

QD
type: SiteQuality
SIO_000300: 1.347e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.03e-1

DP
type: SiteQuality
SIO_000300: 3.51077e5

VQSLOD
type: SiteQuality
SIO_000300: 6.22e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1766
bin: 9.75e1
variant carriers: 20

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

South Asian
type: Population
allele count: 21
allele frequency: 2.654196157735086e-3
allele num: 7912
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

DP
type: SiteQuality
SIO_000300: 3.52145e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

FS
type: SiteQuality
SIO_000300: 1.757e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

QD
type: SiteQuality
SIO_000300: 1.137e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeQuality
all individuals: 507
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8874
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 2.164502164502165e-3
allele num: 2772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

FS
type: SiteQuality
SIO_000300: 1.757e0

DP
type: SiteQuality
SIO_000300: 3.52145e5

QD
type: SiteQuality
SIO_000300: 1.137e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

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

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

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 356
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6011
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1745
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 388
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.25377507324769e-4
allele num: 8874
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.610108303249097e-4
allele num: 2770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

FS
type: SiteQuality
SIO_000300: 5.23e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

DP
type: SiteQuality
SIO_000300: 3.50844e5

GenotypeQuality
all individuals: 1414
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1180
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6012
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 3.791708796764409e-4
allele num: 7912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.491e0

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.06e-1

FS
type: SiteQuality
SIO_000300: 2.804e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

DP
type: SiteQuality
SIO_000300: 3.50512e5

GenotypeQuality
all individuals: 6017
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

DP
type: SiteQuality
SIO_000300: 3.50224e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

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

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 386
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6016
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.620564808110065e-4
allele num: 2762
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.427184466019417e-3
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.338e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
SIO_000300: 3.4915e5

FS
type: SiteQuality
SIO_000300: 1.652e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

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

GenotypeQuality
all individuals: 622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 1.825233858088068e-3
allele num: 8766
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

FS
type: SiteQuality
SIO_000300: 1.79e0

QD
type: SiteQuality
SIO_000300: 1.26e1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.95e-1

DP
type: SiteQuality
SIO_000300: 3.49481e5

GenotypeQuality
all individuals: 155
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 201
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 7.5e0
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GenotypeQuality
all individuals: 5686
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 1.091703056768559e-3
allele num: 2748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.43226e5

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

FS
type: SiteQuality
SIO_000300: 9.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.965e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

QD
type: SiteQuality
SIO_000300: 1.505e1

MQ
type: SiteQuality
SIO_000300: 5.849e1

GenotypeQuality
all individuals: 1778
bin: 9.75e1
variant carriers: 85

GenotypeQuality
all individuals: 198
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 592
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 3.574723247232472e-3
allele num: 8672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.27258844489692e-4
allele num: 7858
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

African
type: Population
allele count: 53
allele frequency: 1.928675400291121e-2
allele num: 2748
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.427184466019417e-3
allele num: 412
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.57e0

QD
type: SiteQuality
SIO_000300: 1.499e1

DP
type: SiteQuality
SIO_000300: 3.41449e5

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7790
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.660322108345535e-4
allele num: 2732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

FS
type: SiteQuality
SIO_000300: 6.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.08e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.55e-1

DP
type: SiteQuality
SIO_000300: 3.2453e5

GenotypeQuality
all individuals: 140
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.623903864891198e-4
allele num: 6158
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.71888e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.261e0

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.299e0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 6.157635467980296e-4
allele num: 1624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.844e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.624e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.319e0

FS
type: SiteQuality
SIO_000300: 1.2542e1

DP
type: SiteQuality
SIO_000300: 3.21489e5

GenotypeQuality
all individuals: 474
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 9.75e1
variant carriers: 101

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6066
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 102
allele frequency: 3.711790393013101e-2
allele num: 2748
num of homozygotes: 4

South Asian
type: Population
allele count: 1
allele frequency: 1.28633907898122e-4
allele num: 7774
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.439024390243902e-3
allele num: 410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8712
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.566e1

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

FS
type: SiteQuality
SIO_000300: 2.094e0

DP
type: SiteQuality
SIO_000300: 3.28741e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8758
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.274859765425803e-4
allele num: 7844
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4249e1

DP
type: SiteQuality
SIO_000300: 3.28156e5

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.914e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.314e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: -9.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.707e0

QD
type: SiteQuality
SIO_000300: 1.49e1

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 613
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 9.75e1
variant carriers: 89

GenotypeQuality
all individuals: 232
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.427184466019417e-3
allele num: 412
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.271940981938438e-4
allele num: 7862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 3.082895638273579e-3
allele num: 8758
num of homozygotes: 0

African
type: Population
allele count: 56
allele frequency: 2.031930333817126e-2
allele num: 2756
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.773e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

DP
type: SiteQuality
SIO_000300: 3.31366e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.961e1

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 9.75e1
variant carriers: 89

GenotypeQuality
all individuals: 6182
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 3.084304318026045e-3
allele num: 8754
num of homozygotes: 0

African
type: Population
allele count: 56
allele frequency: 2.034883720930233e-2
allele num: 2752
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.427184466019417e-3
allele num: 412
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.271294177472667e-4
allele num: 7866
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.935e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 3.31441e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

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

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.636363636363636e-4
allele num: 2750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

FS
type: SiteQuality
SIO_000300: 6.121e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.492e0

DP
type: SiteQuality
SIO_000300: 3.28187e5

MQRankSum
type: SiteQuality
SIO_000300: -1.657e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.121e1

VQSLOD
type: SiteQuality
SIO_000300: -1.844e0

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

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

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

GenotypeQuality
all individuals: 85
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.143902997025852e-4
allele num: 8742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.28115e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

FS
type: SiteQuality
SIO_000300: 3.408e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.44e0

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.01e-1

QD
type: SiteQuality
SIO_000300: 1.451e1

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 610
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8712
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2736
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.529084471421346e-4
allele num: 7908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.409e0

MQRankSum
type: SiteQuality
SIO_000300: 8.91e-1

DP
type: SiteQuality
SIO_000300: 3.26551e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

FS
type: SiteQuality
SIO_000300: 2.052e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.78e-1

QD
type: SiteQuality
SIO_000300: 1.01e1

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 232
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.663003663003663e-4
allele num: 2730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8708
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.905e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.459e0

FS
type: SiteQuality
SIO_000300: 2.334e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

QD
type: SiteQuality
SIO_000300: 1.128e1

VQSLOD
type: SiteQuality
SIO_000300: 4.02e-1

DP
type: SiteQuality
SIO_000300: 3.25646e5

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
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variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.150218541522889e-4
allele num: 8694
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0474e1

VQSLOD
type: SiteQuality
SIO_000300: -8.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.94e-1

QD
type: SiteQuality
SIO_000300: 1.117e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.2096e5

GenotypeQuality
all individuals: 484
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1436
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.673769287288758e-4
allele num: 2722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8690
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.224e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.695e-1

FS
type: SiteQuality
SIO_000300: 7.453e0

MQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

DP
type: SiteQuality
SIO_000300: 3.19743e5

QD
type: SiteQuality
SIO_000300: 5.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.096491228070175e-4
allele num: 9120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.29e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 1.215e0

DP
type: SiteQuality
SIO_000300: 4.93007e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.252e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.292e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 3872
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 232
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.060728744939271e-4
allele num: 7904
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.93638e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.223e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.544e0

FS
type: SiteQuality
SIO_000300: 2.892e0

MQRankSum
type: SiteQuality
SIO_000300: -8.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3870
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.098418277680141e-4
allele num: 9104
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 7.194244604316547e-4
allele num: 2780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

DP
type: SiteQuality
SIO_000300: 4.93229e5

VQSLOD
type: SiteQuality
SIO_000300: -2.037e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 1.4288e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
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variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
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variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.529724260055654e-4
allele num: 7906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9104
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.93071e5

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

FS
type: SiteQuality
SIO_000300: 7.817e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.136e1

GenotypeQuality
all individuals: 1132
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 550
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variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.115573404730031e-4
allele num: 8964
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.441e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 4.90476e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 8.400000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.45e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
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GenotypeQuality
all individuals: 3870
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GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 211
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GenotypeQuality
all individuals: 3790
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.119068934646374e-4
allele num: 8936
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: -5.349e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.628e0

MQ
type: SiteQuality
SIO_000300: 5.894e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

FS
type: SiteQuality
SIO_000300: 5.522e0

DP
type: SiteQuality
SIO_000300: 4.89967e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e0

QD
type: SiteQuality
SIO_000300: 7.9e0

GenotypeQuality
all individuals: 473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 527
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.119319453772107e-4
allele num: 8934
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 3.615328994938539e-4
allele num: 2766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 4.89947e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

QD
type: SiteQuality
SIO_000300: 1.381e1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 5.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

GenotypeQuality
all individuals: 618
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3919
bin: 9.75e1
variant carriers: 84

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

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.487562189054726e-3
allele num: 402
num of homozygotes: 0

African
type: Population
allele count: 54
allele frequency: 1.96078431372549e-2
allele num: 2754
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 3.033707865168539e-3
allele num: 8900
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.264542235710673e-4
allele num: 7908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

DP
type: SiteQuality
SIO_000300: 4.92961e5

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.249e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

QD
type: SiteQuality
SIO_000300: 1.376e1

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3874
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 521
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.124606387764283e-4
allele num: 8892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

QD
type: SiteQuality
SIO_000300: 9.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.037e0

DP
type: SiteQuality
SIO_000300: 4.8952e5

MQ
type: SiteQuality
SIO_000300: 5.927e1

FS
type: SiteQuality
SIO_000300: 2.581e0

GenotypeQuality
all individuals: 800
bin: 7.5e0
variant carriers: 217

GenotypeQuality
all individuals: 136
bin: 2.25e1
variant carriers: 76

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 28

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 43

GenotypeQuality
all individuals: 257
bin: 6.75e1
variant carriers: 97

GenotypeQuality
all individuals: 8922
bin: 9.75e1
variant carriers: 8539

GenotypeQuality
all individuals: 183
bin: 9.25e1
variant carriers: 155

European (Finnish)
type: Population
allele count: 1202
allele frequency: 7.401477832512315e-1
allele num: 1624
num of homozygotes: 439

African
type: Population
allele count: 1268
allele frequency: 4.648093841642228e-1
allele num: 2728
num of homozygotes: 311

East Asian
type: Population
allele count: 328
allele frequency: 5.077399380804953e-1
allele num: 646
num of homozygotes: 80

Other
type: Population
allele count: 158
allele frequency: 6.26984126984127e-1
allele num: 252
num of homozygotes: 43

South Asian
type: Population
allele count: 4525
allele frequency: 5.73947234906139e-1
allele num: 7884
num of homozygotes: 1330

Latino
type: Population
allele count: 210
allele frequency: 5.172413793103449e-1
allele num: 406
num of homozygotes: 47

European (Non-Finnish)
type: Population
allele count: 5853
allele frequency: 6.71831955922865e-1
allele num: 8712
num of homozygotes: 1949

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

QD
type: SiteQuality
SIO_000300: 2.361e1

VQSLOD
type: SiteQuality
SIO_000300: 6.36e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.366e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.008e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

DP
type: SiteQuality
SIO_000300: 7.91869e5

GenotypeQuality
all individuals: 309
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 1.120238984316654e-3
allele num: 2678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 5.45694e5

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

MQRankSum
type: SiteQuality
SIO_000300: -3.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.54e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 522
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2666
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.566076469078779e-4
allele num: 7794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.62e-2

QD
type: SiteQuality
SIO_000300: 1.254e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.396e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.63e-1

DP
type: SiteQuality
SIO_000300: 5.33239e5

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

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

GenotypeQuality
all individuals: 2519
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.472e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.82e-2

DP
type: SiteQuality
SIO_000300: 5.31463e5

VQSLOD
type: SiteQuality
SIO_000300: -2.819e0

FS
type: SiteQuality
SIO_000300: 7.347e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

GenotypeQuality
all individuals: 849
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 838
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1632
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.623376623376623e-3
allele num: 616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3142
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.5332e5

ClippingRankSum
type: SiteQuality
SIO_000300: -9.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.46e0

MQRankSum
type: SiteQuality
SIO_000300: -1.019e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.319e0

QD
type: SiteQuality
SIO_000300: 1.19e1

GenotypeQuality
all individuals: 3323
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.563791874554526e-4
allele num: 2806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4448
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

FS
type: SiteQuality
SIO_000300: 5.322e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 3.80387e5

VQSLOD
type: SiteQuality
SIO_000300: -5.91e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

QD
type: SiteQuality
SIO_000300: 1.301e1

MQRankSum
type: SiteQuality
SIO_000300: -6.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.215e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

GenotypeQuality
all individuals: 168
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2903
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 3.55366027007818e-4
allele num: 2814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1638
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.49e-1

FS
type: SiteQuality
SIO_000300: 1.113e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.06e-1

MQ
type: SiteQuality
SIO_000300: 6.067e1

QD
type: SiteQuality
SIO_000300: 1.074e1

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

DP
type: SiteQuality
SIO_000300: 3.83597e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

GenotypeQuality
all individuals: 3115
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3322
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 229
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.561253561253561e-4
allele num: 2808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4774
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

DP
type: SiteQuality
SIO_000300: 3.85574e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.039e0

QD
type: SiteQuality
SIO_000300: 1.246e1

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

FS
type: SiteQuality
SIO_000300: 7.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3545
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3334
bin: 9.75e1
variant carriers: 13

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.411100658513641e-3
allele num: 8504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1644
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.914975105323631e-4
allele num: 5222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

FS
type: SiteQuality
SIO_000300: 1.427e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

DP
type: SiteQuality
SIO_000300: 3.92897e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

GenotypeQuality
all individuals: 2039
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.734304543877905e-4
allele num: 5766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1642
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2846
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.568000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.545e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.045e0

QD
type: SiteQuality
SIO_000300: 1.158e1

DP
type: SiteQuality
SIO_000300: 4.0121e5

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

GenotypeQuality
all individuals: 284
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 237
bin: 8.25e1
variant carriers: 5

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

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 218
bin: 9.25e1
variant carriers: 1

South Asian
type: Population
allele count: 2
allele frequency: 3.028467595396729e-4
allele num: 6604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1642
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 1.715686274509804e-2
allele num: 408
num of homozygotes: 0

African
type: Population
allele count: 320
allele frequency: 1.102687801516196e-1
allele num: 2902
num of homozygotes: 23

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 3.027584660237722e-3
allele num: 8918
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.22e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 5.78e-1

DP
type: SiteQuality
SIO_000300: 4.29836e5

QD
type: SiteQuality
SIO_000300: 1.52e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

GenotypeQuality
all individuals: 665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2898
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1642
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.339046598821639e-4
allele num: 7468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

DP
type: SiteQuality
SIO_000300: 4.25628e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.291e0

QD
type: SiteQuality
SIO_000300: 8.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.303e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.301e0

GenotypeQuality
all individuals: 3237
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.08038029386344e-4
allele num: 9256
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0352e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 4.28931e5

QD
type: SiteQuality
SIO_000300: 8.539999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.53e0

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

GenotypeQuality
all individuals: 242
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3238
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 217
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.551020408163266e-4
allele num: 7840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

DP
type: SiteQuality
SIO_000300: 4.32663e5

MQRankSum
type: SiteQuality
SIO_000300: -1.007e0

FS
type: SiteQuality
SIO_000300: 2.419e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.581e0

QD
type: SiteQuality
SIO_000300: 2.713e1

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

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

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.267427122940431e-4
allele num: 7890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1640
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

QD
type: SiteQuality
SIO_000300: 1.12e1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 4.3301e5

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.794e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 5.0e0

GenotypeQuality
all individuals: 824
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3237
bin: 9.75e1
variant carriers: 1